Article
Gly197Arg mutation in protein C causes recurrent thrombosis in a heterozygous carrier.
Journal of thrombosis and haemostasis : JTH - 1 May 2020
Lu Yeling, Giri Hemant, Villoutreix Bruno O, Ding Qiulan, Wang Xuefeng, Rezaie Alireza R
Abstract excerpt
BACKGROUND: Activated protein C (APC) downregulates thrombin generation by inactivating procoagulant cofactors Va and VIIIa by limited proteolysis. We identified two protein C-deficient patients both of whom carry a heterozygous Gly197 to Arg (G197R) mutation in PROC and experience venous thrombosis. OBJECTIVE: The objective of this study was to determine the molecular basis of the clotting defect in patients...
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