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Article

Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation.

Blood - 26 Feb 2015

Dargaud Yesim, Scoazec Jean Yves, Wielders Simone J H, Trzeciak Christine, Hackeng Tilman M, Négrier Claude, Hemker H Coenraad, Lindhout Theo, Castoldi Elisabetta

Abstract excerpt

We describe a family with an autosomal dominant disorder characterized by severe trauma- and surgery-related bleeding. The proband, who experienced life-threatening bleeding during a routine operation, had normal clotting times, but markedly reduced prothrombin consumption. Plasma levels of all coagulation factors and of the main coagulation inhibitors were normal. Thrombin generation at low triggers was severely...

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Identifiers

PMID: 25564403
DOI: 10.1182/blood-2014-10-604553
PMCID: PMC4342361

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THBD

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