Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease

Von Willebrand disease (VWD) is an inherited bleeding disorder characterized by incomplete penetrance and variable expressivity. We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-bindi...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Chen, Junmei, Hinckley, Jesse D., Haberichter, Sandra, Jacobi, Paula, Montgomery, Robert, Flood, Veronica H., Wong, Randall, Interlandi, Gianluca, Chung, Dominic W., López, José A., Di Paola, Jorge
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Thrombosis and Hemostasis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4497966/
https://ncbi.nlm.nih.gov/pubmed/26019279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-11-613935
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