Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
全外显子组测序鉴定出四肽重复结构域7A（TTC7A）突变与肠闭锁合并免疫缺陷有关
期刊:Journal of Allergy and Clinical Immunology
影响因子:11.2
doi:10.1016/j.jaci.2013.06.013
Chen, Rui; Giliani, Silvia; Lanzi, Gaetana; Mias, George I; Lonardi, Silvia; Dobbs, Kerry; Manis, John; Im, Hogune; Gallagher, Jennifer E; Phanstiel, Douglas H; Euskirchen, Ghia; Lacroute, Philippe; Bettinger, Keith; Moratto, Daniele; Weinacht, Katja; Montin, Davide; Gallo, Eleonora; Mangili, Giovanna; Porta, Fulvio; Notarangelo, Lucia D; Pedretti, Stefania; Al-Herz, Waleed; Alfahdli, Wasmi; Comeau, Anne Marie; Traister, Russell S; Pai, Sung-Yun; Carella, Graziella; Facchetti, Fabio; Nadeau, Kari C; Snyder, Michael; Notarangelo, Luigi D
