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Article

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Nature genetics - 1 Aug 1993

Snell R G, MacMillan J C, Cheadle J P, Fenton I, Lazarou L P, Davies P, MacDonald M E, Gusella J F, Harper P S, Shaw D J

Abstract excerpt

The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30-70 repeats in affected individuals and 9-34 in normals. We find significant negative correlations between the number of repeats on the HD chromosome and age at onset, regardless of sex of the transmitting parent, and between the number of...

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Identifiers

PMID: 8401588
DOI: 10.1038/ng0893-393

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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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