Article
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Parkinsonism & related disorders - 1 Dec 2019
Zhu Zeyu, Zhang Chao, Zhao Guohua, Liu Qing, Zhong Ping, Zhang Mei, Tang Weiguo, Zhan Feixia, Tian Wotu, Wang Yan, Yin Kaili, Huang Xiaojun, Jiang Jingwen, Liu Xiaoli, Liu Shihua, Zhou Haiyan, Luan Xinghua, Tang Huidong, Wang Ying, Chen Shengdi, Cao Li
Abstract excerpt
BACKGROUND: Mutations in the SPAST gene are the most frequent cause of hereditary spastic paraplegia (HSP). We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein. METHODS: Whole-exome sequencing (WES) combined with multiplex ligation-dependent probe amplification (MLPA)...
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