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Article

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.

Nature genetics - 1 Oct 1993

Myers R H, MacDonald M E, Koroshetz W J, Duyao M P, Ambrose C M, Taylor S A, Barnes G, Srinidhi J, Lin C S, Whaley W L

Abstract excerpt

Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In four families, elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the...

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Identifiers

PMID: 8252042
DOI: 10.1038/ng1093-168

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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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