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

    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]

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