Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Summary

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Authors: Marín-Quilez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PMM, 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

Journal title: Blood

Journal number: 00064971

Journal publisher: American Society of Hematology

Published year: 2022

DOI identifier: 10.1182/blood.2022016995

ISSN: 0006-4971