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Article

[Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Nakano R

Abstract excerpt

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder affecting primarily upper and lower motor neurons. In all cases of ALS, approximately 5-10% of cases are familial (FALS). Missense mutations in the Cu/Zn superoxide dismutase (SOD1) gene on chromosome 21 have been demonstrated in some families of FALS since 1993. We have also identified a novel missense mutation (substitution of Thr for Ala4) in...

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Source

Identifiers

PMID: 8752459

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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