Cargando…
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue
Most, but not all patients with type 2B von Willebrand disease (VWD)—which features gain-of-function mutations in the A1 domain of von Willebrand factor (VWF)—have no circulating large VWF multimers. Similarities and differences were analysed in 33 type 2B patients, 12 with a normal and 21 with an a...
Autores principales: | Casonato, Alessandra, Daidone, Viviana, Galletta, Eva, Bertomoro, Antonella |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480883/ https://www.ncbi.nlm.nih.gov/pubmed/28640903 http://dx.doi.org/10.1371/journal.pone.0179566 |
Ejemplares similares
-
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease
por: Casonato, Alessandra, et al.
Publicado: (2016) -
Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor
por: Daidone, Viviana, et al.
Publicado: (2020) -
Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival
por: Casonato, Alessandra, et al.
Publicado: (2021) -
No von Willebrand factor domains other than A1 are involved in type 2B von Willebrand disease: what the p.R924Q and p.A2178S variants teach us
por: Alessandra, Casonato, et al.
Publicado: (2023) -
Evaluation of a semi‐automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers
por: Bowyer, Annette E., et al.
Publicado: (2018)