A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation.
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DOI: 10.1182/bloodadvances.2019001155
Abstract: Thrombomodulin functions as an anticoagulant through thrombin binding and protein C activation. We herein report the first case of hereditary functional thrombomodulin deficiency presenting with recurrent subcutaneous hemorrhage and old cerebral infarction. The patient had… read more here.
Keywords: protein; thrombomodulin mutation; case; activation ... See more keywords