全外显子组测序在中国肌萎缩侧索硬化症和2型夏科-马里-图斯病患者中鉴定出新型KIF5A突变。 - Suppr

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超能文献

Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.

作者信息

He Jing, Liu Xiaoxuan, Tang Lu, Zhao Chen, He Ji, Fan Dongsheng

机构信息

Neurology, Peking University Third Hospital, Beijing, China.

Neurology, Peking University Third Hospital, Beijing, China

出版信息

J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):326-328. doi: 10.1136/jnnp-2019-320483. Epub 2019 Aug 17.

DOI:10.1136/jnnp-2019-320483

PMID:31422367

Abstract

摘要

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