Enhancer-gene rewiring in the pathogenesis of Quebec Platelet Disorder.
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DOI: 10.1182/blood.2020005394
Abstract: Quebec Platelet Disorder (QPD) is an autosomal dominant bleeding disorder with a unique, platelet-dependent gain-of-function defect in fibrinolysis, without systemic fibrinolysis. The hallmark feature of QPD is a >100-fold overexpression of PLAU specifically in megakaryocytes.… read more here.
Keywords: plau; quebec platelet; platelet disorder; disorder ... See more keywords