| General References |
- 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
- Wood WI, Capon DJ, Simonsen CC, Eaton DL, Gitschier J, Keyt B, Seeburg PH, Smith DH, Hollingshead P, Wion KL, et al.: Expression of active human factor VIII from recombinant DNA clones. Nature. 1984 Nov 22-28;312(5992):330-7. Pubmed
- 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
- 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
- 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
- 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
- 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
- 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
- Gitschier J: The molecular basis of hemophilia A. Ann N Y Acad Sci. 1991;614:89-96. Pubmed
- White GC 2nd, Shoemaker CB: Factor VIII gene and hemophilia A. Blood. 1989 Jan;73(1):1-12. Pubmed
- Antonarakis SE, Kazazian HH, Tuddenham EG: Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. Pubmed
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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