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Article

Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease.

American journal of medical genetics - 18 Dec 1996

Alford R L, Ashizawa T, Jankovic J, Caskey C T, Richards C S

Abstract excerpt

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by expansion of a variable length (CAG)n repeat in the 5' coding region of a novel gene on chromosome 4p16.3. We provide comprehensive molecular analysis of a sporadic case of HD in which a paternally derived norma...

Topics

Female
Genetic Counseling
Humans
Huntington Disease
Male
Middle Aged
Mutation
Paternity
Polymerase Chain Reaction
Trinucleotide Repeats

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8985488
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<281::AID-AJMG9>3.0.CO;2-S

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8985488-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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