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Article

Molecular analysis and clinical correlations of the Huntington's disease mutation.

Lancet (London, England) - 16 Oct 1993

MacMillan J C, Snell R G, Tyler A, Houlihan G D, Fenton I, Cheadle J P, Lazarou L P, Shaw D J, Harper P S

Abstract excerpt

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene (IT15) on chromosome 4. We have investigated the relation of the phenotype of HD to this molecular defect and assessed the feasibility of HD mutation analysis in diagnosis and prediction. Analysis of DNA from 449 HD patients (351 familial and 98 apparently...

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PMID: 8105214
DOI: 10.1016/0140-6736(93)92002-b

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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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