Article
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Medicine - 1 Mar 2016
Veyradier Agnès, Boisseau Pierre, Fressinaud Edith, Caron Claudine, Ternisien Catherine, Giraud Mathilde, Zawadzki Christophe, Trossaert Marc, Itzhar-Baïkian Nathalie, Dreyfus Marie, d'Oiron Roseline, Borel-Derlon Annie, Susen Sophie, Bezieau Stéphane, Denis Cécile V, Goudemand Jenny
Abstract excerpt
von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels <50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant...
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