Mutation screening of AOPEP variants in a large dystonia cohort

Lin, JY; Li, CY; Cui, YY; Hou, YB; Zhang, LY; Ou, RW; Wei, QQ; Liu, KC; Huang, R; Yang, TM; Xiao, Y; Jiang, QR; Yang, J; Chen, XP; Shang, HF

Shang, HF (通讯作者)，Sichuan Univ, West China Hosp, Rare Dis Ctr, Dept Neurol,Lab Neurodegenerat Disorders, 37, Guo Xue Rd, Chengdu 610041, Sichuan, Peoples R China.

JOURNAL OF NEUROLOGY, 2023; 270 (6): 3225

Abstract

Study objectivesRecently, AOPEP has been identified to be a novel causative gene of autosomal-recessive dystonia. However, no large cohort study has b......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索