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Article

A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters.

American journal of human genetics - 1 Mar 2000

Laccone F, Christian W

Abstract excerpt

Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have been well documented for the male germline. We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD. Our findings give evidence...

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Identifiers

PMID: 10712225
DOI: 10.1086/302810
PMCID: PMC1288149

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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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