Abstract
The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution
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Chromosome Inversion
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Chromosomes, Human, X / genetics*
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CpG Islands / genetics
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DNA Mutational Analysis
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Factor VIII / genetics*
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Hemophilia A / epidemiology
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Hemophilia A / genetics*
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Humans
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Introns / genetics
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Male
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Mutation, Missense*
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Polymerase Chain Reaction
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Spain / epidemiology