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Membrane procoagulation and N‑terminomics/TAILS profiling in Montreal platelet syndrome kindred with VWF p.V1316M mutation

BACKGROUND: The Montreal platelet syndrome kindred (MPS) with VWF p.V1316M mutation (2B-VWDMPS) is an extremely rare disorder. It has been associated with macrothrombocytopenia, spontaneous platelet clumping, mucocutaneous, and other bleeding, which can be largely prevented by von Willebrand factor...

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Detalles Bibliográficos
Autores principales: Agbani, Ejaife O., Young, Daniel, Chen, Si An, Smith, Sophie, Lee, Adrienne, Poole, Alastair W., Dufour, Antoine, Poon, Man-Chiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10514327/
https://www.ncbi.nlm.nih.gov/pubmed/37735203
http://dx.doi.org/10.1038/s43856-023-00354-1