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Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Neurobiology of aging - 1 Jan 2016

Kim Hee-Jung, Oh Ki-Wook, Kwon Min-Jung, Oh Seong-Il, Park Jin-Seok, Kim Young-Eun, Choi Byung-Ok, Lee Seungbok, Ki Chang-Seok, Kim Seung Hyun

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease involving motor neurons. Because a growing number of genes have been identified as the genetic etiology of ALS, simultaneous screening of mutations in multiple genes is likely to be more efficient than gene-by-gene testing. In this study, we performed a multigene panel testing by using targeted capture of 18 ALS-related genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26601740
DOI: 10.1016/j.neurobiolaging.2015.09.012

Genes

ALS2
MAPT
SOD1
SQSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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