Molecular etiology of factor VIII deficiency in hemophilia A.
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Antonarakis SE, Kazazian HH, Tuddenham EG
Molecular etiology of factor VIII deficiency in hemophilia A.
Hum Mutat. 1995;5(1):1-22.
- PubMed ID
- 7728145 [ View in PubMed]
- Abstract
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.