Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype

Genotyping is not routinely performed at diagnosis of von Willebrand disease (VWD). Therefore, the association between genetic variants and pathogenic mechanism or the clinical and laboratory phenotype is unknown in most patients, especially in type 1 VWD. To investigate whether genotyping adds to a...

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Detalles Bibliográficos
Autores principales: Atiq, Ferdows, Boender, Johan, van Heerde, Waander L., Tellez Garcia, Juan M., Schoormans, Selene C., Krouwel, Sandy, Cnossen, Marjon H., Laros-van Gorkom, Britta A. P., de Meris, Joke, Fijnvandraat, Karin, van der Bom, Johanna G., Meijer, Karina, van Galen, Karin P. M., Eikenboom, Jeroen, Leebeek, Frank W. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208869/
https://www.ncbi.nlm.nih.gov/pubmed/35747851
http://dx.doi.org/10.1097/HS9.0000000000000718

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