Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA, Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S
JCI Insight. 2020 Mar 12;5(5). pii: 133880. doi: 10.1172/jci.insight.133880.
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