A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family
在一个四代家族中,一种独特的杂合CARD11突变同时具有功能获得型和功能丧失型患者的致病特征。
期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2018.02944
Desjardins, Marylin; Arjunaraja, Swadhinya; Stinson, Jeffrey R; Dorjbal, Batsukh; Sundaresan, Janani; Niemela, Julie; Raffeld, Mark; Matthews, Helen F; Wang, Angela; Angelus, Pamela; Su, Helen C; Mazer, Bruce D; Snow, Andrew L