Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models

Type 1 VWD is the mild to moderate reduction of VWF levels. This study examined the mechanisms underlying 2 common type 1 VWD mutations, the severe R1205H and more moderate Y1584C. In vitro biosynthesis was reduced for both mutations in human and mouse VWF, with the effect being more severe in R1205...

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Autors principals: Pruss, Cynthia M., Golder, Mia, Bryant, Andrea, Hegadorn, Carol A., Burnett, Erin, Laverty, Kimberly, Sponagle, Kate, Dhala, Aly, Notley, Colleen, Haberichter, Sandra, Lillicrap, David
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2011
Matèries:
Thrombosis and Hemostasis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3087484/
https://ncbi.nlm.nih.gov/pubmed/21346256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-08-303727
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