Molecular etiology of factor VIII deficiency in hemophilia A
|Published in||Human Mutation. 1995, vol. 5, no. 1, p. 1-22|
|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.|
|Keywords||Amino Acid Sequence — Base Sequence — Binding Sites/genetics — Chromosome Mapping — DNA/genetics — DNA Mutational Analysis — Factor VIII/chemistry/ genetics/metabolism — Female — Gene Rearrangement — Hemophilia A/ genetics — Humans — Male — Mutation — Point Mutation — Polymorphism, Genetic — Retroelements — Sequence Deletion — X Chromosome/ultrastructure|
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|ANTONARAKIS, Stylianos, KAZAZIAN, H. H., TUDDENHAM, E. G. Molecular etiology of factor VIII deficiency in hemophilia A. In: Human Mutation, 1995, vol. 5, n° 1, p. 1-22. doi: 10.1002/humu.1380050102 https://archive-ouverte.unige.ch/unige:9131|