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Article

CNR1 variation is associated with the age at onset in Huntington disease.

European journal of medical genetics - 1 Aug 2013

Kloster Eugen, Saft Carsten, Epplen Jörg T, Arning Larissa

Abstract excerpt

Huntington disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the HTT gene. Although the variation in age at onset (AO) is partly explained by the length of the expanded repeat blocks, the unexplained variation in AO is highly heritable, emphasizing the role of modifier genes on disease expression. Since down-regulation of type 1 cannabinoid (CB1) receptors is a key pathogenic event in HD,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23747361
DOI: 10.1016/j.ejmg.2013.05.007

Genes

CNR1
HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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