Quebec platelet disorder

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Quebec platelet disorder2016-11-08T21:11:36+00:00

Quebec platelet disorder

HAEMATOLOGY

Definition An autosomal dominant bleeding disorder (OMIM:601709) caused by a gain-of-function defect in fibrinolysis, resulting in delayed onset bleeding after a challenge, such as surgery.

Diagnosis Markedly increased PLAU levels within platelets, resulting in intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. 

Molecular pathology Defects of PLAU, which encodes a serine protease involved in degrading the extracellular matrix, cause Quebec platelet disorder. 

References http://www.uniprot.org/uniprot/P00749

http://www.omim.org/entry/601709

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