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Article

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.

Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Jun 2002

Segovia-Silvestre Toni, Andreu Antonio L, Vives-Bauza Cristofol, Garcia-Arumi Elena, Cervera Carlos, Gamez Josep

Abstract excerpt

INTRODUCTION: Details of the mutations in the Cu/Zn superoxide dismutase (SOD1) gene in patients with the familial form of amyotrophic lateral sclerosis are currently being gathered in order better to understand the genotype-phenotype relationship in this disorder. We report on a large family with 15 affected individuals spanning five generations. RESULTS: A novel mutation in the exon 3 of the SOD1 gene, an...

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Source

Identifiers

PMID: 12215228
DOI: 10.1080/146608202760196039

Genes

SOD1

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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