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Article

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.

Journal of the neurological sciences - 15 Jul 2011

Baek Wonki, Koh Seong-Ho, Park Jin Seok, Kim Young Seo, Kim Hyun Young, Kwon Min Jung, Ki Chang-Seok, Kim Seung Hyun

Abstract excerpt

We identified a novel missense mutation in the Cu/Zn superoxide dismutase (SOD1) gene in a 47-year-old woman with familial amyotrophic lateral sclerosis (ALS). The heterozygous mutation, in exon 1 of the SOD1 gene, is a GC to TT transversion in nucleotide positions 13 and 14 leading to an alanine...

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Source

Identifiers

PMID: 21496827
DOI: 10.1016/j.jns.2011.03.041

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-21496827-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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