Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome

Autor: Luo, Ying, Xia, Yu, Wang, Wenjing, Li, Zhichuan, Jin, Yan, Gong, Yifeng, He, Tingyan, Li, Qiu, Li, Chengrong, Yang, Jun
Zdroj: In Clinical Immunology December 2018 197:60-67
Databáze: ScienceDirect