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Article

A novel 10-base pair insertion mutation in exon 5 of the SOD1 gene in a Chinese family with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Sept 2016

Chen Siyu, Li Mao, Zhu Wenjia, Mao Fengbiao, Wang Jiesi, Sun Zhongsheng, Huang Xusheng

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is an adult-onset, progressive, fatal neurodegenerative disease. Several genes are associated with ALS. Copper-zinc superoxide dismutase 1 (SOD1) is one of the most commonly mutated genes in ALS, and more than 160 mutations in SOD1 have been reported. We reported a novel heterozygous insertion mutation that led to a frameshift and a premature termination at position 136 in exon...

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Source

Identifiers

PMID: 27297615
DOI: 10.1016/j.neurobiolaging.2016.04.021

Genes

SOD1

Variants

Provenance

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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