Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
作者信息
Dong Hai-Lin, Cheng Hao-Ling, Bai Ge, Shen Ying, Wu Zhi-Ying
机构信息
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Institute of Neuroscience, Zhejiang University School of Medicine, Hangzhou, China.
出版信息
Brain. 2020 Jun 1;143(6):e50. doi: 10.1093/brain/awaa121.
PMID:32437512
Abstract
摘要
Zotero 插件