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Molecular etiology of factor VIII deficiency in hemophilia A

Kazazian, H. H.
Tuddenham, E. G.
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 SequenceBase SequenceBinding Sites/geneticsChromosome MappingDNA/geneticsDNA Mutational AnalysisFactor VIII/chemistry/ genetics/metabolismFemaleGene RearrangementHemophilia A/ geneticsHumansMaleMutationPoint MutationPolymorphism, GeneticRetroelementsSequence DeletionX Chromosome/ultrastructure
PMID: 7728145
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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. https://archive-ouverte.unige.ch/unige:9131

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