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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Binding Sites / genetics
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Chromosome Mapping
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DNA / genetics
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DNA Mutational Analysis
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Factor VIII / chemistry
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Factor VIII / genetics*
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Factor VIII / metabolism
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Female
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Gene Rearrangement
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Hemophilia A / genetics*
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Humans
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Male
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Mutation
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Point Mutation
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Polymorphism, Genetic
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Retroelements
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Sequence Deletion
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X Chromosome / ultrastructure
Substances
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Retroelements
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Factor VIII
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DNA