Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM.
Marín-Quílez A, et al. Among authors: vuelta e.
Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995.
Blood. 2023.
PMID: 36395340
Free PMC article.