Expanding the genetic spectrum of TUBB1-related thrombocytopenia

β1-Tubulin plays a major role in proplatelet formation and platelet shape maintenance, and pathogenic variants in TUBB1 lead to thrombocytopenia and platelet anisocytosis (TUBB1-RT). To date, the reported number of pedigrees with TUBB1-RT and of rare TUBB1 variants with experimental demonstration of...

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Detalles Bibliográficos
Autores principales: Palma-Barqueros, Verónica, Bury, Loredana, Kunishima, Shinji, Lozano, María Luisa, Rodríguez-Alen, Augustín, Revilla, Nuria, Bohdan, Natalia, Padilla, José, Fernández-Pérez, María P., de la Morena-Barrio, María Eugenia, Marín-Quiles, Ana, Benito, Rocío, López-Fernández, María F., Marcellini, Shally, Zamora-Cánovas, Ana, Vicente, Vicente, Martínez, Constantino, Gresele, Paolo, Bastida, José M., Rivera, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Platelets and Thrombopoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714720/
https://www.ncbi.nlm.nih.gov/pubmed/34516618
http://dx.doi.org/10.1182/bloodadvances.2020004057

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