Article
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.
Blood - 12 Feb 2009
Diamandis Maria, Paterson Andrew D, Rommens Johanna M, Veljkovic D Kika, Blavignac Jessica, Bulman Dennis E, Waye John S, Derome Francine, Rivard Georges E, Hayward Catherine P M
Abstract excerpt
Quebec platelet disorder (QPD) is an autosomal dominant disorder with high penetrance that is associated with increased risks for bleeding. The hallmark of QPD is a gain-of-function defect in fibrinolysis due to increased platelet content of urokinase plasminogen activator (uPA) without systemic fibrinolysis. We hypothesized that increased expression of uPA by differentiating QPD megakaryocytes is linked to PLAU....
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