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Article

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

European journal of human genetics : EJHG - 1 Apr 2014

Kwok Chun T, Morris Alex, de Belleroche Jacqueline S

Abstract excerpt

Mutations in the SQSTM1 gene have been reported to be associated with amyotrophic lateral sclerosis (ALS). We sought to determine the frequency of these mutations in a UK familial ALS (FALS) cohort. Sequences of all eight exons of the SQSTM1 gene were analysed in index cases from 61 different FAL...

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Source

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Identifiers

PMID: 23942205
DOI: 10.1038/ejhg.2013.184
PMCID: PMC3953910

Genes

SQSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23942205-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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