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Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD

ESSENTIALS: Specific sequence variants in the VWF D′D3 region are associated with elevated VWF antigen levels. VWF levels and variant frequencies were examined in both European and Caucasian Americans. Subjects homozygous for D′D3 variants had the highest VWF and factor VIII levels. D′D3 variants ar...

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Detalles Bibliográficos
Autores principales: Flood, Veronica H., Johnsen, Jill M., Kochelek, Caroline, Slobodianuk, Tricia L., Christopherson, Pamela A., Haberichter, Sandra L., Udani, Rupa, Bellissimo, Daniel B., Friedman, Kenneth D., Montgomery, Robert R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974909/
https://www.ncbi.nlm.nih.gov/pubmed/30046743
http://dx.doi.org/10.1002/rth2.12077