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Article

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

Human molecular genetics - 15 Aug 2012

Synofzik Matthis, Ronchi Dario, Keskin Isil, Basak Ayse N, Wilhelm Christian, Gobbi Claudio, Birve Anna, Biskup Saskia, Zecca Chiara, Fernández-Santiago Rubén, Kaugesaar Toomas, Schöls Ludger, Marklund Stefan L, Andersen Peter M

Abstract excerpt

A reason for screening amyotrophic lateral sclerosis (ALS) patients for mutations in the superoxide dismutase-1 (SOD1) gene is the opportunity to find novel mutations with properties that can give information on pathogenesis. A novel c.352C>G (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe. The disease showed unusually low penetrance and slow progression. In erythrocytes, the total...

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Identifiers

PMID: 22595972
DOI: 10.1093/hmg/dds188

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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