A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD

Gain-of-function (GOF) variants in GP1BA cause platelet-type von Willebrand disease (PT-VWD), a rare inherited autosomal dominant bleeding disorder characterized by enhanced platelet GPIbα to von Willebrand factor (VWF) interaction, and thrombocytopenia. To date, only 6 variants causing PT-VWD have...

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Detalles Bibliográficos
Autores principales: Bury, Loredana, Falcinelli, Emanuela, Kuchi Bhotla, Haripriya, Mezzasoma, Anna Maria, Guglielmini, Giuseppe, Tischer, Alexander, Moon-Tasson, Laurie, Auton, Matthew, Gresele, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Platelets and Thrombopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006298/
https://www.ncbi.nlm.nih.gov/pubmed/34619770
http://dx.doi.org/10.1182/bloodadvances.2021005463

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9006298/
https://www.ncbi.nlm.nih.gov/pubmed/34619770
http://dx.doi.org/10.1182/bloodadvances.2021005463

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