Abstract
A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Arginine / genetics*
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Base Sequence
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Child, Preschool
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DNA, Complementary / chemistry
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Female
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Glutamine / genetics*
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Humans
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Male
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Molecular Sequence Data
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Mutation*
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Polymerase Chain Reaction
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von Willebrand Diseases / blood
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von Willebrand Diseases / genetics*
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von Willebrand Factor / genetics*
Substances
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DNA, Complementary
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von Willebrand Factor
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Glutamine
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Arginine