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Identification
HMDB Protein ID HMDBP01727
Secondary Accession Numbers
  • 7071
Name Coagulation factor VIII
Synonyms
  1. AHF
  2. Antihemophilic factor
  3. Factor VIII B chain
  4. Factor VIIIa heavy chain, 200 kDa isoform
  5. Factor VIIIa heavy chain, 92 kDa isoform
  6. Factor VIIIa light chain
  7. Procoagulant component
Gene Name F8
Protein Type Unknown
Biological Properties
General Function Involved in cell adhesion
Specific Function Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa
Pathways
  • Acenocoumarol Action Pathway
  • Alteplase Action Pathway
  • Aminocaproic Acid Action Pathway
  • Anistreplase Action Pathway
  • Aprotinin Action Pathway
  • Ardeparin Action Pathway
  • Argatroban Action Pathway
  • Bivalirudin Action Pathway
  • Coagulation
  • Dicoumarol Action Pathway
  • Dicumarol Action Pathway
  • Enoxaparin Action Pathway
  • Fondaparinux Action Pathway
  • Heparin Action Pathway
  • Lepirudin Action Pathway
  • Phenindione Action Pathway
  • Phenprocoumon Action Pathway
  • Reteplase Action Pathway
  • Streptokinase Action Pathway
  • Tenecteplase Action Pathway
  • Tranexamic Acid Action Pathway
  • Urokinase Action Pathway
  • Warfarin Action Pathway
  • Ximelagatran Action Pathway
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
oxidoreductase activity
copper ion binding
Process
cell adhesion
metabolic process
cellular process
oxidation reduction
Cellular Location
  1. Secreted
  2. extracellular space
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs F8
Gene Sequence
>7056 bp
ATGCAAATAGAGCTCTCCACCTGCTTCTTTCTGTGCCTTTTGCGATTCTGCTTTAGTGCC
ACCAGAAGATACTACCTGGGTGCAGTGGAACTGTCATGGGACTATATGCAAAGTGATCTC
GGTGAGCTGCCTGTGGACGCAAGATTTCCTCCTAGAGTGCCAAAATCTTTTCCATTCAAC
ACCTCAGTCGTGTACAAAAAGACTCTGTTTGTAGAATTCACGGATCACCTTTTCAACATC
GCTAAGCCAAGGCCACCCTGGATGGGTCTGCTAGGTCCTACCATCCAGGCTGAGGTTTAT
GATACAGTGGTCATTACACTTAAGAACATGGCTTCCCATCCTGTCAGTCTTCATGCTGTT
GGTGTATCCTACTGGAAAGCTTCTGAGGGAGCTGAATATGATGATCAGACCAGTCAAAGG
GAGAAAGAAGATGATAAAGTCTTCCCTGGTGGAAGCCATACATATGTCTGGCAGGTCCTG
AAAGAGAATGGTCCAATGGCCTCTGACCCACTGTGCCTTACCTACTCATATCTTTCTCAT
GTGGACCTGGTAAAAGACTTGAATTCAGGCCTCATTGGAGCCCTACTAGTATGTAGAGAA
GGGAGTCTGGCCAAGGAAAAGACACAGACCTTGCACAAATTTATACTACTTTTTGCTGTA
TTTGATGAAGGGAAAAGTTGGCACTCAGAAACAAAGAACTCCTTGATGCAGGATAGGGAT
GCTGCATCTGCTCGGGCCTGGCCTAAAATGCACACAGTCAATGGTTATGTAAACAGGTCT
CTGCCAGGTCTGATTGGATGCCACAGGAAATCAGTCTATTGGCATGTGATTGGAATGGGC
ACCACTCCTGAAGTGCACTCAATATTCCTCGAAGGTCACACATTTCTTGTGAGGAACCAT
CGCCAGGCGTCCTTGGAAATCTCGCCAATAACTTTCCTTACTGCTCAAACACTCTTGATG
GACCTTGGACAGTTTCTACTGTTTTGTCATATCTCTTCCCACCAACATGATGGCATGGAA
GCTTATGTCAAAGTAGACAGCTGTCCAGAGGAACCCCAACTACGAATGAAAAATAATGAA
GAAGCGGAAGACTATGATGATGATCTTACTGATTCTGAAATGGATGTGGTCAGGTTTGAT
GATGACAACTCTCCTTCCTTTATCCAAATTCGCTCAGTTGCCAAGAAGCATCCTAAAACT
TGGGTACATTACATTGCTGCTGAAGAGGAGGACTGGGACTATGCTCCCTTAGTCCTCGCC
CCCGATGACAGAAGTTATAAAAGTCAATATTTGAACAATGGCCCTCAGCGGATTGGTAGG
AAGTACAAAAAAGTCCGATTTATGGCATACACAGATGAAACCTTTAAGACTCGTGAAGCT
ATTCAGCATGAATCAGGAATCTTGGGACCTTTACTTTATGGGGAAGTTGGAGACACACTG
TTGATTATATTTAAGAATCAAGCAAGCAGACCATATAACATCTACCCTCACGGAATCACT
GATGTCCGTCCTTTGTATTCAAGGAGATTACCAAAAGGTGTAAAACATTTGAAGGATTTT
CCAATTCTGCCAGGAGAAATATTCAAATATAAATGGACAGTGACTGTAGAAGATGGGCCA
ACTAAATCAGATCCTCGGTGCCTGACCCGCTATTACTCTAGTTTCGTTAATATGGAGAGA
GATCTAGCTTCAGGACTCATTGGCCCTCTCCTCATCTGCTACAAAGAATCTGTAGATCAA
AGAGGAAACCAGATAATGTCAGACAAGAGGAATGTCATCCTGTTTTCTGTATTTGATGAG
AACCGAAGCTGGTACCTCACAGAGAATATACAACGCTTTCTCCCCAATCCAGCTGGAGTG
CAGCTTGAGGATCCAGAGTTCCAAGCCTCCAACATCATGCACAGCATCAATGGCTATGTT
TTTGATAGTTTGCAGTTGTCAGTTTGTTTGCATGAGGTGGCATACTGGTACATTCTAAGC
ATTGGAGCACAGACTGACTTCCTTTCTGTCTTCTTCTCTGGATATACCTTCAAACACAAA
ATGGTCTATGAAGACACACTCACCCTATTCCCATTCTCAGGAGAAACTGTCTTCATGTCG
ATGGAAAACCCAGGTCTATGGATTCTGGGGTGCCACAACTCAGACTTTCGGAACAGAGGC
ATGACCGCCTTACTGAAGGTTTCTAGTTGTGACAAGAACACTGGTGATTATTACGAGGAC
AGTTATGAAGATATTTCAGCATACTTGCTGAGTAAAAACAATGCCATTGAACCAAGAAGC
TTCTCCCAGAATTCAAGACACCCTAGCACTAGGCAAAAGCAATTTAATGCCACCACAATT
CCAGAAAATGACATAGAGAAGACTGACCCTTGGTTTGCACACAGAACACCTATGCCTAAA
ATACAAAATGTCTCCTCTAGTGATTTGTTGATGCTCTTGCGACAGAGTCCTACTCCACAT
GGGCTATCCTTATCTGATCTCCAAGAAGCCAAATATGAGACTTTTTCTGATGATCCATCA
CCTGGAGCAATAGACAGTAATAACAGCCTGTCTGAAATGACACACTTCAGGCCACAGCTC
CATCACAGTGGGGACATGGTATTTACCCCTGAGTCAGGCCTCCAATTAAGATTAAATGAG
AAACTGGGGACAACTGCAGCAACAGAGTTGAAGAAACTTGATTTCAAAGTTTCTAGTACA
TCAAATAATCTGATTTCAACAATTCCATCAGACAATTTGGCAGCAGGTACTGATAATACA
AGTTCCTTAGGACCCCCAAGTATGCCAGTTCATTATGATAGTCAATTAGATACCACTCTA
TTTGGCAAAAAGTCATCTCCCCTTACTGAGTCTGGTGGACCTCTGAGCTTGAGTGAAGAA
AATAATGATTCAAAGTTGTTAGAATCAGGTTTAATGAATAGCCAAGAAAGTTCATGGGGA
AAAAATGTATCGTCAACAGAGAGTGGTAGGTTATTTAAAGGGAAAAGAGCTCATGGACCT
GCTTTGTTGACTAAAGATAATGCCTTATTCAAAGTTAGCATCTCTTTGTTAAAGACAAAC
AAAACTTCCAATAATTCAGCAACTAATAGAAAGACTCACATTGATGGCCCATCATTATTA
ATTGAGAATAGTCCATCAGTCTGGCAAAATATATTAGAAAGTGACACTGAGTTTAAAAAA
GTGACACCTTTGATTCATGACAGAATGCTTATGGACAAAAATGCTACAGCTTTGAGGCTA
AATCATATGTCAAATAAAACTACTTCATCAAAAAACATGGAAATGGTCCAACAGAAAAAA
GAGGGCCCCATTCCACCAGATGCACAAAATCCAGATATGTCGTTCTTTAAGATGCTATTC
TTGCCAGAATCAGCAAGGTGGATACAAAGGACTCATGGAAAGAACTCTCTGAACTCTGGG
CAAGGCCCCAGTCCAAAGCAATTAGTATCCTTAGGACCAGAAAAATCTGTGGAAGGTCAG
AATTTCTTGTCTGAGAAAAACAAAGTGGTAGTAGGAAAGGGTGAATTTACAAAGGACGTA
GGACTCAAAGAGATGGTTTTTCCAAGCAGCAGAAACCTATTTCTTACTAACTTGGATAAT
TTACATGAAAATAATACACACAATCAAGAAAAAAAAATTCAGGAAGAAATAGAAAAGAAG
GAAACATTAATCCAAGAGAATGTAGTTTTGCCTCAGATACATACAGTGACTGGCACTAAG
AATTTCATGAAGAACCTTTTCTTACTGAGCACTAGGCAAAATGTAGAAGGTTCATATGAC
GGGGCATATGCTCCAGTACTTCAAGATTTTAGGTCATTAAATGATTCAACAAATAGAACA
AAGAAACACACAGCTCATTTCTCAAAAAAAGGGGAGGAAGAAAACTTGGAAGGCTTGGGA
AATCAAACCAAGCAAATTGTAGAGAAATATGCATGCACCACAAGGATATCTCCTAATACA
AGCCAGCAGAATTTTGTCACGCAACGTAGTAAGAGAGCTTTGAAACAATTCAGACTCCCA
CTAGAAGAAACAGAACTTGAAAAAAGGATAATTGTGGATGACACCTCAACCCAGTGGTCC
AAAAACATGAAACATTTGACCCCGAGCACCCTCACACAGATAGACTACAATGAGAAGGAG
AAAGGGGCCATTACTCAGTCTCCCTTATCAGATTGCCTTACGAGGAGTCATAGCATCCCT
CAAGCAAATAGATCTCCATTACCCATTGCAAAGGTATCATCATTTCCATCTATTAGACCT
ATATATCTGACCAGGGTCCTATTCCAAGACAACTCTTCTCATCTTCCAGCAGCATCTTAT
AGAAAGAAAGATTCTGGGGTCCAAGAAAGCAGTCATTTCTTACAAGGAGCCAAAAAAAAT
AACCTTTCTTTAGCCATTCTAACCTTGGAGATGACTGGTGATCAAAGAGAGGTTGGCTCC
CTGGGGACAAGTGCCACAAATTCAGTCACATACAAGAAAGTTGAGAACACTGTTCTCCCG
AAACCAGACTTGCCCAAAACATCTGGCAAAGTTGAATTGCTTCCAAAAGTTCACATTTAT
CAGAAGGACCTATTCCCTACGGAAACTAGCAATGGGTCTCCTGGCCATCTGGATCTCGTG
GAAGGGAGCCTTCTTCAGGGAACAGAGGGAGCGATTAAGTGGAATGAAGCAAACAGACCT
GGAAAAGTTCCCTTTCTGAGAGTAGCAACAGAAAGCTCTGCAAAGACTCCCTCCAAGCTA
TTGGATCCTCTTGCTTGGGATAACCACTATGGTACTCAGATACCAAAAGAAGAGTGGAAA
TCCCAAGAGAAGTCACCAGAAAAAACAGCTTTTAAGAAAAAGGATACCATTTTGTCCCTG
AACGCTTGTGAAAGCAATCATGCAATAGCAGCAATAAATGAGGGACAAAATAAGCCCGAA
ATAGAAGTCACCTGGGCAAAGCAAGGTAGGACTGAAAGGCTGTGCTCTCAAAACCCACCA
GTCTTGAAACGCCATCAACGGGAAATAACTCGTACTACTCTTCAGTCAGATCAAGAGGAA
ATTGACTATGATGATACCATATCAGTTGAAATGAAGAAGGAAGATTTTGACATTTATGAT
GAGGATGAAAATCAGAGCCCCCGCAGCTTTCAAAAGAAAACACGACACTATTTTATTGCT
GCAGTGGAGAGGCTCTGGGATTATGGGATGAGTAGCTCCCCACATGTTCTAAGAAACAGG
GCTCAGAGTGGCAGTGTCCCTCAGTTCAAGAAAGTTGTTTTCCAGGAATTTACTGATGGC
TCCTTTACTCAGCCCTTATACCGTGGAGAACTAAATGAACATTTGGGACTCCTGGGGCCA
TATATAAGAGCAGAAGTTGAAGATAATATCATGGTAACTTTCAGAAATCAGGCCTCTCGT
CCCTATTCCTTCTATTCTAGCCTTATTTCTTATGAGGAAGATCAGAGGCAAGGAGCAGAA
CCTAGAAAAAACTTTGTCAAGCCTAATGAAACCAAAACTTACTTTTGGAAAGTGCAACAT
CATATGGCACCCACTAAAGATGAGTTTGACTGCAAAGCCTGGGCTTATTTCTCTGATGTT
GACCTGGAAAAAGATGTGCACTCAGGCCTGATTGGACCCCTTCTGGTCTGCCACACTAAC
ACACTGAACCCTGCTCATGGGAGACAAGTGACAGTACAGGAATTTGCTCTGTTTTTCACC
ATCTTTGATGAGACCAAAAGCTGGTACTTCACTGAAAATATGGAAAGAAACTGCAGGGCT
CCCTGCAATATCCAGATGGAAGATCCCACTTTTAAAGAGAATTATCGCTTCCATGCAATC
AATGGCTACATAATGGATACACTACCTGGCTTAGTAATGGCTCAGGATCAAAGGATTCGA
TGGTATCTGCTCAGCATGGGCAGCAATGAAAACATCCATTCTATTCATTTCAGTGGACAT
GTGTTCACTGTACGAAAAAAAGAGGAGTATAAAATGGCACTGTACAATCTCTATCCAGGT
GTTTTTGAGACAGTGGAAATGTTACCATCCAAAGCTGGAATTTGGCGGGTGGAATGCCTT
ATTGGCGAGCATCTACATGCTGGGATGAGCACACTTTTTCTGGTGTACAGCAATAAGTGT
CAGACTCCCCTGGGAATGGCTTCTGGACACATTAGAGATTTTCAGATTACAGCTTCAGGA
CAATATGGACAGTGGGCCCCAAAGCTGGCCAGACTTCATTATTCCGGATCAATCAATGCC
TGGAGCACCAAGGAGCCCTTTTCTTGGATCAAGGTGGATCTGTTGGCACCAATGATTATT
CACGGCATCAAGACCCAGGGTGCCCGTCAGAAGTTCTCCAGCCTCTACATCTCTCAGTTT
ATCATCATGTATAGTCTTGATGGGAAGAAGTGGCAGACTTATCGAGGAAATTCCACTGGA
ACCTTAATGGTCTTCTTTGGCAATGTGGATTCATCTGGGATAAAACACAATATTTTTAAC
CCTCCAATTATTGCTCGATACATCCGTTTGCACCCAACTCATTATAGCATTCGCAGCACT
CTTCGCATGGAGTTGATGGGCTGTGATTTAAATAGTTGCAGCATGCCATTGGGAATGGAG
AGTAAAGCAATATCAGATGCACAGATTACTGCTTCATCCTACTTTACCAATATGTTTGCC
ACCTGGTCTCCTTCAAAAGCTCGACTTCACCTCCAAGGGAGGAGTAATGCCTGGAGACCT
CAGGTGAATAATCCAAAAGAGTGGCTGCAAGTGGACTTCCAGAAGACAATGAAAGTCACA
GGAGTAACTACTCAGGGAGTAAAATCTCTGCTTACCAGCATGTATGTGAAGGAGTTCCTC
ATCTCCAGCAGTCAAGATGGCCATCAGTGGACTCTCTTTTTTCAGAATGGCAAAGTAAAG
GTTTTTCAGGGAAATCAAGACTCCTTCACACCTGTGGTGAACTCTCTAGACCCACCGTTA
CTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGATTGCCCTGAGGATG
GAGGTTCTGGGCTGCGAGGCACAGGACCTCTACTGA
Protein Properties
Number of Residues 2351
Molecular Weight 267007.4
Theoretical pI 7.37
Pfam Domain Function
Signals
  • 1-19
Transmembrane Regions
  • None
Protein Sequence
>Coagulation factor VIII
MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN
TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV
GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH
VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD
AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH
RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE
EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA
PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL
LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP
TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE
NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS
IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG
MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI
PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS
PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST
SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE
NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN
KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL
NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG
QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN
LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD
GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT
SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE
KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY
RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP
KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP
GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL
NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE
IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR
AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR
PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV
DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA
PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH
VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC
QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII
HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN
PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA
TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL
ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM
EVLGCEAQDLY
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P00451
UniProtKB/Swiss-Prot Entry Name FA8_HUMAN
PDB IDs Not Available
GenBank Gene ID M14113
GeneCard ID F8
GenAtlas ID F8
HGNC ID HGNC:3546
References
General References
  1. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  2. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed:16335952 ]
  3. Truett MA, Blacher R, Burke RL, Caput D, Chu C, Dina D, Hartog K, Kuo CH, Masiarz FR, Merryweather JP, et al.: Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA. DNA. 1985 Oct;4(5):333-49. [PubMed:3935400 ]
  4. Wood WI, Capon DJ, Simonsen CC, Eaton DL, Gitschier J, Keyt B, Seeburg PH, Smith DH, Hollingshead P, Wion KL, Delwart E, Tuddenham EG, Vehar GA, Lawn RM: Expression of active human factor VIII from recombinant DNA clones. Nature. 1984 Nov 22-28;312(5992):330-7. [PubMed:6438526 ]
  5. Toole JJ, Knopf JL, Wozney JM, Sultzman LA, Buecker JL, Pittman DD, Kaufman RJ, Brown E, Shoemaker C, Orr EC, et al.: Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature. 1984 Nov 22-28;312(5992):342-7. [PubMed:6438528 ]
  6. Gitschier J, Wood WI: Sequence of the exon-containing regions of the human factor VIII gene. Hum Mol Genet. 1992 Jun;1(3):199-200. [PubMed:1303178 ]
  7. Severs JC, Carnine M, Eguizabal H, Mock KK: Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis. Rapid Commun Mass Spectrom. 1999;13(11):1016-23. [PubMed:10368977 ]
  8. Leyte A, van Schijndel HB, Niehrs C, Huttner WB, Verbeet MP, Mertens K, van Mourik JA: Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor. J Biol Chem. 1991 Jan 15;266(2):740-6. [PubMed:1898735 ]
  9. Pittman DD, Wang JH, Kaufman RJ: Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII. Biochemistry. 1992 Apr 7;31(13):3315-25. [PubMed:1554716 ]
  10. Saenko EL, Scandella D: The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von willebrand factor. J Biol Chem. 1997 Jul 18;272(29):18007-14. [PubMed:9218428 ]
  11. McMullen BA, Fujikawa K, Davie EW, Hedner U, Ezban M: Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A). Protein Sci. 1995 Apr;4(4):740-6. [PubMed:7613471 ]
  12. Gilbert GE, Baleja JD: Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy. Biochemistry. 1995 Mar 7;34(9):3022-31. [PubMed:7893714 ]
  13. Gitschier J: The molecular basis of hemophilia A. Ann N Y Acad Sci. 1991;614:89-96. [PubMed:1902642 ]
  14. White GC 2nd, Shoemaker CB: Factor VIII gene and hemophilia A. Blood. 1989 Jan;73(1):1-12. [PubMed:2491949 ]
  15. Antonarakis SE, Kazazian HH, Tuddenham EG: Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. [PubMed:7728145 ]
  16. Gitschier J, Wood WI, Shuman MA, Lawn RM: Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science. 1986 Jun 13;232(4756):1415-6. [PubMed:3012775 ]
  17. Levinson B, Janco R, Phillips J 3rd, Gitschier J: A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res. 1987 Dec 10;15(23):9797-805. [PubMed:3122181 ]
  18. Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr: Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet. 1988 May;42(5):718-25. [PubMed:2833855 ]
  19. Youssoufian H, Wong C, Aronis S, Platokoukis H, Kazazian HH Jr, Antonarakis SE: Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene. Am J Hum Genet. 1988 Jun;42(6):867-71. [PubMed:2835904 ]
  20. O'Brien DP, Tuddenham EG: Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A. Blood. 1989 Jun;73(8):2117-22. [PubMed:2499363 ]
  21. Shima M, Ware J, Yoshioka A, Fukui H, Fulcher CA: An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. Blood. 1989 Oct;74(5):1612-7. [PubMed:2506948 ]
  22. Chan V, Chan TK, Tong TM, Todd D: A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. Blood. 1989 Dec;74(8):2688-91. [PubMed:2510835 ]
  23. Inaba H, Fujimaki M, Kazazian HH Jr, Antonarakis SE: Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Hum Genet. 1989 Mar;81(4):335-8. [PubMed:2495245 ]
  24. Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian HH Jr, Fujimaki M, Hoyer LW: Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). Proc Natl Acad Sci U S A. 1989 Jun;86(11):4277-81. [PubMed:2498882 ]
  25. Arai M, Higuchi M, Antonarakis SE, Kazazian HH Jr, Phillips JA 3rd, Janco RL, Hoyer LW: Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. Blood. 1990 Jan 15;75(2):384-9. [PubMed:2104766 ]
  26. Casula L, Murru S, Pecorara M, Ristaldi MS, Restagno G, Mancuso G, Morfini M, De Biasi R, Baudo F, Carbonara A, et al.: Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. Blood. 1990 Feb 1;75(3):662-70. [PubMed:2105106 ]
  27. Pattinson JK, McVey JH, Boon M, Ajani A, Tuddenham EG: CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site. Br J Haematol. 1990 May;75(1):73-7. [PubMed:1973901 ]
  28. Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH Jr, Antonarakis SE: Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics. 1990 Jan;6(1):65-71. [PubMed:2105906 ]
  29. Traystman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH Jr: Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. Genomics. 1990 Feb;6(2):293-301. [PubMed:2106480 ]
  30. Kogan S, Gitschier J: Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A. 1990 Mar;87(6):2092-6. [PubMed:2107542 ]
  31. Paynton C, Sarkar G, Sommer SS: Identification of mutations in two families with sporadic hemophilia A. Hum Genet. 1991 Aug;87(4):397-400. [PubMed:1908817 ]
  32. Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9. [PubMed:1908096 ]
  33. Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH Jr: Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8307-11. [PubMed:1924291 ]
  34. Schwaab R, Ludwig M, Kochhan L, Oldenburg J, McVey JH, Egli H, Brackmann HH, Olek K: Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. Thromb Res. 1991 Feb 1;61(3):225-34. [PubMed:1851341 ]
  35. Krepelova A, Vorlova Z, Acquila M, Mori P: GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin. Br J Haematol. 1992 Jul;81(3):458. [PubMed:1356412 ]
  36. Economou EP, Kazazian HH Jr, Antonarakis SE: Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics. 1992 Jul;13(3):909-11. [PubMed:1639429 ]
  37. Reiner AP, Thompson AR: Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. Hum Genet. 1992 Apr;89(1):88-94. [PubMed:1349567 ]
  38. Nafa K, Baudis M, Deburgrave N, Bardin JM, Sultan Y, Kaplan JC, Delpech M: A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. Hum Mutat. 1992;1(1):77-8. [PubMed:1301194 ]
  39. Diamond C, Kogan S, Levinson B, Gitschier J: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Hum Mutat. 1992;1(3):248-57. [PubMed:1301932 ]
  40. Jonsdottir S, Diamond C, Levinson B, Magnusson S, Jensson O, Gitschier J: Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. Hum Mutat. 1992;1(6):506-8. [PubMed:1301960 ]
  41. McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE: Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics. 1993 Feb;15(2):392-8. [PubMed:8449505 ]
  42. Pieneman WC, Reitsma PH, Briet E: Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene. Thromb Haemost. 1993 May 3;69(5):473-5. [PubMed:8322269 ]
  43. Arruda VR, Pieneman WC, Reitsma PH, Deutz-Terlouw PP, Annichino-Bizzacchi JM, Briet E, Costa FF: Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. Blood. 1995 Oct 15;86(8):3015-20. [PubMed:7579394 ]
  44. Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Briet E: Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol. 1995 Jun;90(2):442-9. [PubMed:7794769 ]
  45. Bidichandani SI, Lanyon WG, Shiach CR, Lowe GD, Connor JM: Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. Hum Genet. 1995 May;95(5):531-8. [PubMed:7759074 ]
  46. Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J: Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet. 1996 Apr;58(4):657-70. [PubMed:8644728 ]
  47. Chan V, Pang A, Chan TP, Chan VW, Chan TK: Molecular characterization of haemophilia A in southern Chinese. Br J Haematol. 1996 May;93(2):451-6. [PubMed:8639447 ]
  48. Rudzki Z, Duncan EM, Casey GJ, Neumann M, Favaloro EJ, Lloyd JV: Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol. 1996 Aug;94(2):400-6. [PubMed:8759905 ]
  49. Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A: Mutations in the FVIII gene in seven families with mild haemophilia A. Br J Haematol. 1997 Feb;96(2):426-7. [PubMed:9029040 ]
  50. Morichika S, Shima M, Kamisue S, Tanaka I, Imanaka Y, Suzuki H, Shibata H, Pemberton S, Gale K, McVey J, Tuddenham EG, Yoshioka A: Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism. Br J Haematol. 1997 Sep;98(4):901-6. [PubMed:9326186 ]
  51. Tavassoli K, Eigel A, Pollmann H, Horst J: Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum Genet. 1997 Oct;100(5-6):508-11. [PubMed:9341862 ]
  52. Liu M, Murphy ME, Thompson AR: A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. Br J Haematol. 1998 Dec;103(4):1051-60. [PubMed:9886318 ]
  53. Maugard C, Tuffery S, Aguilar-Martinez P, Schved JF, Gris JC, Demaille J, Claustres M: Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts. Hum Mutat. 1998;11(1):18-22. [PubMed:9450898 ]
  54. Theophilus BD, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FG: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. Hum Mutat. 1998;11(4):334. [PubMed:10215414 ]
  55. Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman JJ, Matthijs G: Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene. Hum Mutat. 1998;11(6):470-9. [PubMed:9603440 ]
  56. Tavassoli K, Eigel A, Dworniczak B, Valtseva E, Horst J: Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). Hum Mutat. 1998;Suppl 1:S260-2. [PubMed:9452104 ]
  57. Tavassoli K, Eigel A, Wilke K, Pollmann H, Horst J: Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. Hum Mutat. 1998;12(5):301-3. [PubMed:9792405 ]
  58. Laprise SL, Mak EK, Killoran KA, Layman LC, Gray MR: Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. Hum Mutat. 1998;12(6):393-402. [PubMed:9829908 ]
  59. Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC: Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost. 1998 Apr;79(4):723-6. [PubMed:9569180 ]
  60. Hay CR, Ludlam CA, Colvin BT, Hill FG, Preston FE, Wasseem N, Bagnall R, Peake IR, Berntorp E, Mauser Bunschoten EP, Fijnvandraat K, Kasper CK, White G, Santagostino E: Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost. 1998 Apr;79(4):762-6. [PubMed:9569189 ]
  61. Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV: Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain. Br J Haematol. 1999 Jun;105(4):1123-6. [PubMed:10554831 ]
  62. Strmecki L, Benedik-Dolnicar M, Vouk K, Komel R: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online. Hum Mutat. 1999;13(5):413. [PubMed:10338101 ]
  63. Moller-Morlang K, Tavassoli K, Eigel A, Pollmann H, Horst J: Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online. Hum Mutat. 1999;13(6):504. [PubMed:10408784 ]
  64. Waseem NH, Bagnall R, Green PM, Giannelli F: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost. 1999 Jun;81(6):900-5. [PubMed:10404764 ]
  65. Jacquemin M, Lavend'homme R, Benhida A, Vanzieleghem B, d'Oiron R, Lavergne JM, Brackmann HH, Schwaab R, VandenDriessche T, Chuah MK, Hoylaerts M, Gilles JG, Peerlinck K, Vermylen J, Saint-Remy JM: A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood. 2000 Aug 1;96(3):958-65. [PubMed:10910910 ]
  66. Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood. 2000 Aug 1;96(3):979-87. [PubMed:10910913 ]
  67. Roelse JC, De Laaf RT, Timmermans SM, Peters M, Van Mourik JA, Voorberg J: Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. Br J Haematol. 2000 Feb;108(2):241-6. [PubMed:10691849 ]
  68. Schwaab R, Oldenburg J, Kemball-Cook G, Albert T, Juhler C, Hanfland P, Ingerslev J: Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. Br J Haematol. 2000 Jun;109(3):523-8. [PubMed:10886198 ]
  69. Tagariello G, Belvini D, Salviato R, Are A, De Biasi E, Goodeve A, Davoli P: Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. Haematologica. 2000 May;85(5):525-9. [PubMed:10800171 ]
  70. Goodeve AC, Williams I, Bray GL, Peake IR: Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group. Thromb Haemost. 2000 Jun;83(6):844-8. [PubMed:10896236 ]
  71. Akkarapatumwong V, Oranwiroon S, Pung-amritt P, Treesucon A, Thanootarakul P, Veerakul G, Mahasandana C, Panyim S, Yenchitsomanus P: Mutations of the factor VIII gene in thai hemophilia A patients. Hum Mutat. 2000 Jan;15(1):117-8. [PubMed:10612839 ]
  72. Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K: Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001 Jul;69(1):75-87. Epub 2001 Jun 14. [PubMed:11410838 ]
  73. Ivaskevicius V, Jurgutis R, Rost S, Muller A, Schmitt C, Wulff K, Herrmann FH, Muller CR, Schwaab R, Oldenburg J: Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. Br J Haematol. 2001 Mar;112(4):1062-70. [PubMed:11298607 ]
  74. Theophilus BD, Enayat MS, Williams MD, Hill FG: Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. Haemophilia. 2001 Jul;7(4):381-91. [PubMed:11442643 ]
  75. Bauduer F, Ducout L, Bendriss P, Falaises B, Lavergne JM: Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation. Haemophilia. 2001 Jul;7(4):419-21. [PubMed:11442647 ]
  76. Timur AA, Gurgey A, Aktuglu G, Kavakli K, Canatan D, Olek K, Caglayan SH: Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. Haemophilia. 2001 Sep;7(5):475-81. [PubMed:11554935 ]
  77. Bogdanova N, Lemcke B, Markoff A, Pollmann H, Dworniczak B, Eigel A, Horst J: Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. Hum Mutat. 2001 Dec;18(6):546. [PubMed:11748850 ]
  78. Vidal F, Farssac E, Altisent C, Puig L, Gallardo D: Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb Haemost. 2001 Apr;85(4):580-3. [PubMed:11341489 ]
  79. Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C: Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. Blood. 2002 Oct 15;100(8):3034-6. [PubMed:12351418 ]
  80. Mazurier C, Parquet-Gernez A, Gaucher C, Lavergne JM, Goudemand J: Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. Br J Haematol. 2002 Nov;119(2):390-2. [PubMed:12406074 ]
  81. Sukarova-Stefanovska E, Zisovski N, Muratovska O, Kostova S, Efremov GD: Three novel point mutations causing haemophilia A. Haemophilia. 2002 Sep;8(5):715-8. [PubMed:12199686 ]
  82. Cutler JA, Mitchell MJ, Smith MP, Savidge GF: The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mutat. 2002 Mar;19(3):274-8. [PubMed:11857744 ]
  83. Frusconi S, Passerini I, Girolami F, Masieri M, Linari S, Longo G, Morfini M, Torricelli F: Identification of seven novel mutations of F8C by DHPLC. Hum Mutat. 2002 Sep;20(3):231-2. [PubMed:12203998 ]
  84. Citron M, Godmilow L, Ganguly T, Ganguly A: High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. Hum Mutat. 2002 Oct;20(4):267-74. [PubMed:12325022 ]
  85. Liu ML, Nakaya S, Thompson AR: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. Thromb Haemost. 2002 Feb;87(2):273-6. [PubMed:11858487 ]
  86. Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J: 11 hemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost. 2002 Aug;88(2):357-60. [PubMed:12195713 ]
  87. Bicocchi MP, Pasino M, Lanza T, Bottini F, Boeri E, Mori PG, Molinari AC, Rosano C, Acquila M: Analysis of 18 novel mutations in the factor VIII gene. Br J Haematol. 2003 Sep;122(5):810-7. [PubMed:12930394 ]
  88. Habart D, Kalabova D, Novotny M, Vorlova Z: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J Thromb Haemost. 2003 Apr;1(4):773-81. [PubMed:12871415 ]
  89. Yenchitsomanus P, Akkarapatumwong V, Pung-Amritt P, Intorasoot S, Thanootarakul P, Oranwiroon S, Veerakul G, Mahasandana C: Genotype and phenotype of haemophilia A in Thai patients. Haemophilia. 2003 Mar;9(2):179-86. [PubMed:12614369 ]
  90. Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Caprino D, Rosano C, Acquila M: Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. Am J Hematol. 2005 Feb;78(2):117-22. [PubMed:15682412 ]
  91. Hill M, Deam S, Gordon B, Dolan G: Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia. 2005 Mar;11(2):133-41. [PubMed:15810915 ]
  92. Cai XH, Wang XF, Dai J, Fang Y, Ding QL, Xie F, Wang HL: Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost. 2006 Sep;4(9):1969-74. Epub 2006 Jun 27. [PubMed:16805874 ]