Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly
剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI186119
Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao
