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Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2021

Zou Zhang-Yu, Che Chun-Hui, Feng Shu-Yan, Fang Xiu-Ying, Huang Hua-Pin, Liu Chang-Yun

Abstract excerpt

FUS gene is one of the most common mutated genes in amyotrophic lateral sclerosis (ALS). We sequenced for FUS mutations in a cohort of 15 familial ALS and 275 sporadic ALS of Chinese origin. All 15 exons of the FUS gene were sequenced by targeted next-generation sequencing in a cohort of 15 familial ALS indexes and 275 sporadic ALS patients of Chinese origin. One novel p.Y526F mutation in FUS was detected in one...

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PMID: 32720527
DOI: 10.1080/21678421.2020.1797815

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