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Article

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.

Journal of medical genetics - 1 May 1994

Trottier Y, Biancalana V, Mandel J L

Abstract excerpt

Huntington's disease (HD) has recently been found to be caused by expansion of a trinucleotide (CAG) repeat within the putative coding region of a gene with an unknown function. We report here an analysis of HD mutation and the characteristics of its transmission in 36 HD families. CAG repeats on HD chromosomes were unstable when transmitted from parent to offspring. Instability appeared more frequent and...

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Identifiers

PMID: 8064815
DOI: 10.1136/jmg.31.5.377
PMCID: PMC1049869

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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