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Article

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).

European journal of human genetics : EJHG - 1 Jan 1994

Legius E, Cuppens H, Dierick H, Van Zandt K, Dom R, Fryns J P, Evers-Kiebooms G, Decruyenaere M, Demyttenaere K, Marynen P

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant disorder with choreic movements, psychiatric manifestations and cognitive dysfunction. Recently the IT15 gene on chromosome 4p has been identified containing an unstable and expanded trinucleotide repeat in patients with HD. We report on the characteristics of this repeat in 248 individuals from 41 Belgian HD families. The length of the expanded repeat was...

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Identifiers

PMID: 8044653
DOI: 10.1159/000472340

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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