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Article

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

PloS one - 1 Jan 2013

Metzger Silke, Walter Carolin, Riess Olaf, Roos Raymund A C, Nielsen Jørgen E, Craufurd David, Nguyen Huu Phuc

Abstract excerpt

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently,...

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Source

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Identifiers

PMID: 23894380
DOI: 10.1371/journal.pone.0068951
PMCID: PMC3718802

Genes

ATG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23894380-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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