TY  - JOUR 
AU  - Palma-Barqueros, Verónica
AU  - Loredana, Bury
AU  - Kunishima, Shinji
AU  - Lozano, María Luisa
AU  - Rodríguez-Alen, Augustín
AU  - Revilla, Nuria
AU  - Bohdan, Natalia
AU  - Padilla, José
AU  - Fernández-Pérez, María P
AU  - de la Morena-Barrio, María Eugenia
AU  - Marín-Quilez, Ana
AU  - Benito Sánchez, Rocío
AU  - López-Fernández, María F
AU  - Marcellini, Shally
AU  - Zamora-Cánovas, Ana
AU  - Vicente, Vicente
AU  - Martínez, Constantino
AU  - Gresele, Paolo
AU  - Bastida Bermejo, José María
AU  - Rivera, José
PY  - 2021
UR  - http://hdl.handle.net/10366/171718
AB  - [EN]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...
LA  - eng
KW  - TUBB1-related thrombocytopenia
KW  - Platelets
KW  - Thrombopoiesis
TI  - Expanding the genetic spectrum of TUBB1-related thrombocytopenia
DO  - 10.1182/BLOODADVANCES.2020004057
T2  - Blood Advances
VL  - 5
ER  -