Article
A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function.
Blood - 12 Mar 2015
Cunha Marisa L R, Bakhtiari Kamran, Peter Jorge, Marquart J Arnoud, Meijers Joost C M, Middeldorp Saskia
Abstract excerpt
We investigated a small Dutch family with a bleeding diathesis, prolonged prothrombin, and activated partial thromboplastin times, in whom no classifying diagnosis was made. The 2 affected relatives had severely decreased in vitro thrombin generation, and levels of tissue factor pathway inhibitor (TFPI) were strongly increased. To identify the genetic cause of the bleeding diathesis, we performed whole exome...
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