Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease

por Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Publicado 2020

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

por Zhao, Miao, Su, Hui-Zhen, Zeng, Yi-Heng, Sun, Yuan, Guo, Xin-Xin, Li, Yun-Lu, Wang, Chong, Zhao, Zhi-Yuan, Huang, Xue-Jing, Lin, Kai-Jun, Ye, Zi-Ling, Lin, Bi-Wei, Hong, Shunyan, Zheng, Jitan, Liu, Yao-Bin, Yao, Xiang-Ping, Yang, Dehao, Lu, Ying-Qian, Chen, Hai-Zhu, Zuo, Erwei, Yang, Guang, Wang, Hong-Tao, Huang, Chen-Wei, Lin, Xiao-Hong, Cen, Zhidong, Lai, Lu-Lu, Zhang, Yan-Ke, Li, Xi, Lai, Tianmin, Lin, Jingjing, Zuo, Dan-Dan, Lin, Min-Ting, Liou, Chia-Wei, Kong, Qing-Xia, Yan, Chuan-Zhu, Xiong, Zhi-Qi, Wang, Ning, Luo, Wei, Zhao, Cui-Ping, Cheng, Xuewen, Chen, Wan-Jin
Publicado 2022