Palma-Barqueros, Verónica; Revilla, Nuria; Zaninetti, Carlo; Galera, Ana-María; Sánchez-Fuentes, Ana; Zamora-Cánovas, Ana; Bohdan, Natalia; Padilla, José; Marín-Quílez, Ana; Rodríguez-Alen, Agustín; Fuster, José-Luis; Greinacher, Andreas; Vicente, Vicente; Bastida, José-María; Rivera, José; Lozano, María-Luisa
(ELSEVIER, 2022-09)
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 ...