Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype
与联合免疫缺陷表型相关的新型无义功能获得性 NFKB2 突变
期刊:Blood
影响因子:21
doi:10.1182/blood-2017-05-782177
Hye Sun Kuehn, Julie E Niemela, Karthik Sreedhara, Jennifer L Stoddard, Jennifer Grossman, Christian A Wysocki, M Teresa de la Morena, Mary Garofalo, Jingga Inlora, Michael P Snyder, David B Lewis, Constantine A Stratakis, Thomas A Fleisher, Sergio D Rosenzweig