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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 normal length allele expanded to an affected length allele. Linkage analysis and paternity testing confirm the paternal...

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Identifiers

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

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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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