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Article

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Human genetics - 1 Oct 2014

Martins Sandra, Pearson Christopher E, Coutinho Paula, Provost Sylvie, Amorim António, Dubé Marie-Pierre, Sequeiros Jorge, Rouleau Guy A

Abstract excerpt

Twelve neurological disorders are caused by gene-specific CAG/CTG repeat expansions that are highly unstable upon transmission to offspring. This intergenerational repeat instability is clinically relevant since disease onset, progression and severity are associated with repeat size. Studies of model organisms revealed the involvement of some DNA replication and repair genes in the process of repeat instability,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25026993
DOI: 10.1007/s00439-014-1467-8

Genes

CDK7
ERCC6
RPA3

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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