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Article

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Feb 2017

Kim Young-Eun, Oh Ki-Wook, Noh Min-Young, Nahm Minyeop, Park Jinseok, Lim Su Min, Jang Ja-Hyun, Cho Eun-Hae, Ki Chang-Seok, Lee Seungbok, Kim Seung Hyun

Abstract excerpt

The TANK-binding kinase 1 (TBK1) gene has recently been identified as a novel causative gene of amyotrophic lateral sclerosis (ALS). This study aims to determine the frequency and spectrum of TBK1 variants and their functional implications in Korean patients with sporadic ALS (sALS). TBK1 sequences were analyzed in 129 consecutive patients with sALS using either multigene panel or exome sequencing. One frameshift...

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Identifiers

PMID: 27939697
DOI: 10.1016/j.neurobiolaging.2016.11.003

Genes

TBK1
TANK

Variants

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