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Article

Mutation size and age at onset in Huntington's disease.

Journal of medical genetics - 1 Dec 1993

Craufurd D, Dodge A

Abstract excerpt

The mutation responsible for Huntington's disease is a polymorphic (CAG)n repeat sequence which is expanded on affected chromosomes. The number of repeat units observed on 229 affected chromosomes varied from 27 to 102, while the control chromosomes showed a range of 7 to 34 repeats. There was a...

Topics

Adult
Age of Onset
Aged
Fathers
Female
Humans
Huntington Disease
Male
Middle Aged
Mothers
Mutation
Oligodeoxyribonucleotides
Polymorphism, Genetic
Reference Values

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 8133496
DOI: 10.1136/jmg.30.12.1008
PMCID: PMC1016633

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8133496-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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