Article
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.
Human mutation - 1 Jan 1996
Bernardi F, Castaman G, Pinotti M, Ferraresi P, Di Iasio M G, Lunghi B, Rodeghiero F, Marchetti G
Abstract excerpt
A total of 122 subjects, referred after presurgery screening or checkup for prolonged prothrombin time, were characterized for the presence of coagulation factor VII deficiency. Fourteen subjects carried a partial and asymptomatic deficiency, and in half of them dysfunctional molecules were detected in plasma. In nine subjects we found five missense mutations differing from those previously found in factor VII...
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