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Journal Articles

Mutation in GNE is associated with severe congenital thrombocytopenia

Clinical Trials & Observations
Jane Futterer, Amanda Dalby, Gillian C. Lowe, Ben Johnson, Michael A. Simpson, Jayashree Motwani, Mike Williams, Steve P. Watson, Neil V. Morgan
Journal: Blood
Blood (2018) 132 (17): 1855–1858.
https://doi.org/10.1182/blood-2018-04-847798
Published: 2018
Includes: Supplemental data
Journal Articles

Novel mutations in RASGRP2 , which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

María Luisa Lozano, Aaron Cook, José María Bastida, David S. Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J. Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P. Watson, Wolfgang Bergmeier, José Rivera
Journal: Blood
Blood (2016) 128 (9): 1282–1289.
https://doi.org/10.1182/blood-2015-11-683102
Published: 2016
Includes: Supplemental data