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.
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