Article
[Molecular basis of hereditary antithrombin defects in 10 Czech families].
Casopis lekaru ceskych - 27 Sept 2000
Hrachovinová I, Habart D, Salaj P, Matysková M, Vorlová Z
Abstract excerpt
BACKGROUND: Molecular basis of antithrombin deficiency has not yet been studied in Czech Republic. We looked for the causal mutations throughout the antithrombin gene in 26 patients from 10 unrelated families with antithrombin defect. METHODS AND RESULTS: We screened the gene by conformation sensitive gel electrophoresis and sequenced the mismatched regions using fluorescence technology to characterise mutations...
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