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Article

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2012

Wu Jinyu, Shen Enjian, Shi Dashuang, Sun ZhongSheng, Cai Tao

Abstract excerpt

PURPOSE: Familial amyotrophic lateral sclerosis has been linked to mutations in 15 genes, and it is believed these genes account for less than 20-30% of Chinese patients with familial amyotrophic lateral sclerosis. Of the 163 different superoxide dismutase 1 gene mutations in amyotrophic lateral sclerosis 1, only 6.1% of them were from individuals of Chinese origin. Therefore, to quickly learn the causative gene...

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Identifiers

PMID: 22595939
DOI: 10.1038/gim.2012.50

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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