释义 |
thrombophilia due to thrombomodulin defect thrombophilia due to thrombomodulin defect A rare but likely underdiagnosed haemostatic disorder (OMIM:614486) characterised by a tendency to thrombosis. It is attributed to a defect in THBD, which encodes an endothelial-specific type-I membrane receptor that binds thrombin, activating protein C. |