Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
15个中国GDAP1相关夏科-玛丽-牙病家族的遗传和临床概况,以及H256R作为一种常见突变的鉴定。
IF 3.9
3区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2024-05-05
DOI: 10.1111/jns.12628
Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Ruxu Zhang