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Haemophilia A: Database of Nucleotide Substitutions, Deletions, Insertions and Rearrangements of the Factor VIII Gene, Second Edition

Overview
Specialty Biochemistry
Date 1994 Sep 1
PMID 7937051
Citations 8
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Abstract

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.

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References
1.
Inaba H, Fujimaki M, Kazazian Jr H, Antonarakis S . Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Hum Genet. 1989; 81(4):335-8. DOI: 10.1007/BF00283686. View

2.
Cutting G, Antonarakis S, Youssoufian H, Kazazian Jr H . Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene. Mol Biol Med. 1988; 5(3):173-84. View

3.
Arai M, Inaba H, Higuchi M, Antonarakis S, Kazazian Jr H, Fujimaki M . 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; 86(11):4277-81. PMC: 287434. DOI: 10.1073/pnas.86.11.4277. View

4.
Wehnert M, Herrmann F, Wulff K . Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A. Dis Markers. 1989; 7(2):113-7. View

5.
Mikami S, Nishimura T, Naka H, Kuze K, Fukui H . A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody. Jinrui Idengaku Zasshi. 1988; 33(4):401-7. DOI: 10.1007/BF01897780. View