thrombophilia due to thrombin defect

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thrombophilia due to thrombin defect2016-11-28T07:05:01+00:00

thrombophilia due to thrombin defect 

HAEMATOLOGY

Definition A multifactorial disorder (OMIM:188050) of haemostasis characterised by abnormal platelet aggregation in response to various agents and recurrent thrombosis involving deep veins and pulmonary vasculature and increased risk of pregnancy loss

Molecular pathology Defects of F2, which encodes thrombin, a key protein involved in blood homeostasis, inflammation and wound healing, cause thrombophilia due to thrombin defect. 

Synonym Thrombophilia due to factor 2 defect

References http://www.uniprot.org/uniprot/P00734

http://www.omim.org/entry/188050  

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