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Molecular genetics of coagulation factor VIII gene and hemophilia A

Published in Thrombosis and Haemostasis. 1995, vol. 74, no. 1, p. 322-328
Abstract This review summarizes the structure of human coagulation factor VIII gene and its deduced protein sequence and the molecular etiology of hemophilia A in man. The gross DNA rearrangements including the common inversions of factor VIII (which account for about 45% of severe hemophilia A patients), and the point mutations are discussed. The functional consequences of certain missense mutations are illustrated.
Keywords AnimalsChromosome InversionDNA/geneticsExonsFactor VIII/ genetics/metabolismHemophilia A/ geneticsHumansMaleMiceMice, KnockoutPoint MutationPolymerase Chain Reaction
PMID: 8578479
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ANTONARAKIS, Stylianos. Molecular genetics of coagulation factor VIII gene and hemophilia A. In: Thrombosis and Haemostasis, 1995, vol. 74, n° 1, p. 322-328. https://archive-ouverte.unige.ch/unige:9128

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