Highlights
Scientific Article
unige:9131 
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Molecular etiology of factor VIII deficiency in hemophilia A |
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| Authors | ||
| 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 | |
| Identifiers | PMID: 7728145 | |
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| Citation (ISO format) | 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 |
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