Article
The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.
Blood - 15 Jan 1995
Ohlin A K, Marlar R A
Abstract excerpt
Thrombomodulin (TM) is the anticoagulant endothelial cell membrane-bound protein cofactor in the thrombin-mediated activation of protein C (PC). It has been clearly demonstrated that the anticoagulant and profibrinolytic functions of the PC system are important for the prevention of a thromboembolic disease. Patients with PC, protein S, or PC "'cofactor"' deficiency and/or dysfunction develop thromboembolic...
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