Article
"Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds.
Thrombosis and haemostasis - 1 Mar 1996
Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A
Abstract excerpt
Two unrelated patients belonging to two Italian kindreds with a history of thrombotic manifestations were found to have a double heterozygous defect of factor V (F. V), namely type I quantitative F.V defect and F.V Leiden mutation. Although DNA analysis confirmed the presence of a heterozygous F.V Leiden mutation, the measurement of the responsiveness of patients' plasma to addition of activated protein C (APC)...
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