Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
SEL1L 的双等位基因 Cys141Tyr 变体与神经发育障碍、无丙种球蛋白血症和过早死亡有关
期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI170882
Denisa Weis, Liangguang L Lin, Huilun H Wang, Zexin Jason Li, Katarina Kusikova, Peter Ciznar, Hermann M Wolf, Alexander Leiss-Piller, Zhihong Wang, Xiaoqiong Wei, Serge Weis, Katarina Skalicka, Gabriela Hrckova, Lubos Danisovic, Andrea Soltysova, Tingxuan T Yang, René Günther Feichtinger, Johannes