Abstract
A family with an antithrombin III variant (AT-III-Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47----Cys mutation in exon 2 of the variant antithrombin III gene.
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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Alleles
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Antithrombin III / chemistry
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Antithrombin III / genetics*
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Antithrombin III / metabolism*
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Base Sequence
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Blood Coagulation Tests
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DNA / analysis
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Female
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Genetic Variation*
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Humans
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Molecular Sequence Data
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Mutation
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Polymerase Chain Reaction