Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation
CTPS1缺陷患者的淋巴细胞功能和分化受损是由低活性纯合突变引起的。
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.133880
Martin, Emmanuel; Minet, Norbert; Boschat, Anne-Claire; Sanquer, Sylvia; Sobrino, Steicy; Lenoir, Christelle; de Villartay, Jean Pierre; Leite-de-Moraes, Maria; Picard, Capucine; Soudais, Claire; Bourne, Tim; Hambleton, Sophie; Hughes, Stephen M; Wynn, Robert F; Briggs, Tracy A; Patel, Smita; Lawrence, Monica G; Fischer, Alain; Arkwright, Peter D; Latour, Sylvain