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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Detalles Bibliográficos
Autores principales: Lu, Ying-Qian, Chen, Jian-Min, Lin, Han, Feng, Shu-Yan, Che, Chun-Hui, Liu, Chang-Yun, Huang, Hua-Pin, Zou, Zhang-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8908445/
https://www.ncbi.nlm.nih.gov/pubmed/35283724
http://dx.doi.org/10.3389/fnmol.2022.691534

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