Palma-Barqueros, Verónica; Bury, Loredana; Kunishima, Shinji; Lozano, María-Luisa; Rodríguez-Alen, Agustín; Revilla, Nuria; Bohdan, Nataliya; Padilla, José; Fernández-Pérez, María-Piedad; de-la-Morena-Barrio, María-Eugenia; Marín-Quílez, Ana; Benito, Rocío; López-Fernández, María-F; Marcellini, Shally; Zamora-Cánovas, Ana; Vicente, Vicente; Martínez, Constantino; Gresele, Paolo; Bastida, José-María; Rivera, José
(ELSEVIER, 2021-12-28)
?1-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 ...