Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease

Src-related thrombocytopenia (SRC-RT) is a rare autosomal dominant, inherited platelet disorder resulting from the p.E527K heterozygous germline gain-of-function variant of Src. To date, genetic diagnosis of the disease has only been reported in 7 patients from 3 unrelated families. The clinical fea...

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Detalles Bibliográficos
Autores principales: Palma-Barqueros, Verónica, Revilla, Nuria, Zaninetti, Carlo, Galera, Ana María, Sánchez-Fuentes, Ana, Zámora-Cánovas, Ana, Bohdan, Natalia, Padilla, José, Marín-Quilez, Ana, Rodriguez-Alen, Agustín, Fuster, José Luis, Greinacher, Andreas, Vicente, Vicente, Bastida, José María, Rivera, José, Lozano, María Luisa
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/PMC9631645/
https://www.ncbi.nlm.nih.gov/pubmed/35349645
http://dx.doi.org/10.1182/bloodadvances.2021005446

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631645/
https://www.ncbi.nlm.nih.gov/pubmed/35349645
http://dx.doi.org/10.1182/bloodadvances.2021005446

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