Molecular etiology of factor VIII deficiency in he...[Hum Mutat. 1995]

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1: Hum Mutat. 1995;5(1):1-22.Links

Molecular etiology of factor VIII deficiency in hemophilia A.

Antonarakis SE, Kazazian HH, Tuddenham EG.

Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital, Switzerland.

Hemophilia is a common X-linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients with severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance.

PMID: 7728145 [PubMed - indexed for MEDLINE]

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]
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. [Hum Mutat. 2002]
Molecular genetics of coagulation factor VIII gene and hemophilia A. [Thromb Haemost. 1995]
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. [Hum Mutat. 2001]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. [Nucleic Acids Res. 1994]
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Molecular etiology of factor VIII deficiency in hemophilia A.

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