Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis

TANK-binding kinase 1 (TBK1) has been identified as a causative gene of amyotrophic lateral sclerosis (ALS) in the Caucasian population in 2015. Here, we sequenced for TBK1 variants in a cohort of 15 familial ALS (fALS) and 275 sporadic ALS (sALS) of Chinese origin by targeted next-generation sequen...

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Главные авторы:	Ying-Qian Lu, Jian-Min Chen, Han Lin, Shu-Yan Feng, Chun-Hui Che, Chang-Yun Liu, Hua-Pin Huang, Zhang-Yu Zou
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2022-02-01
Серии:	Frontiers in Molecular Neuroscience
Предметы:	amyotrophic lateral sclerosis (ALS) TANK-binding kinase 1 (TBK1) targeted next-generation sequencing intronic variants aberrant splicing
Online-ссылка:	https://www.frontiersin.org/articles/10.3389/fnmol.2022.691534/full
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