[Gene diagnosis of antithrombin deficiency and factor VII deficiency].

Abstract excerpt

Since 1996 we have performed gene diagnosis of hereditary antithrombin deficiency and factor VII deficiency. We studied twenty-three patients with antithrombin deficiency and identified eighteen distinct gene mutations including single nucleotide substitutions, small nucleotide deletions, a small nucleotide insertion, and whole gene deletions. In two patients, however, we couldn't find out any mutations. We...

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