The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients

BACKGROUND: von Willebrand factor propeptide (VWFpp) plays an important role in VWF multimerization and storage. VWFpp mutations have been previously associated with types 1, 3 and 2A/IIC von Willebrand disease (VWD). AIMS: To characterize the novel p.Thr274Pro variant identified in two unrelated ty...

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Detalles Bibliográficos
Autores principales: Pagliari, Maria Teresa, Baronciani, Luciano, Cordiglieri, Chiara, Colpani, Paola, Cozzi, Giovanna, Siboni, Simona M., Peyvandi, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
ORIGINAL ARTICLES
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303708/
https://www.ncbi.nlm.nih.gov/pubmed/35064738
http://dx.doi.org/10.1111/hae.14494

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