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Article

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

Nature genetics - 1 Oct 1993

Goldberg Y P, Kremer B, Andrew S E, Theilmann J, Graham R K, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E

Abstract excerpt

Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene which is greater than usually seen in the general population but below the range seen in patients with HD. These IAs are...

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PMID: 8252043
DOI: 10.1038/ng1093-174

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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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