UNIGE document Scientific Article
previous document  unige:9131  next document
add to browser collection
Title

Molecular etiology of factor VIII deficiency in hemophilia A

Authors
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
Identifiers
PMID: 7728145
Full text
This document has no fulltext available yet, but you can contact its author by using the form below.
Structures
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

413 hits

0 download

Update

Deposited on : 2010-07-12

Export document
Format :
Citation style :