[Molecular genetic testing in the diagnosis of sporadic cases of Huntington's chorea].

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Article

[Molecular genetic testing in the diagnosis of sporadic cases of Huntington's chorea].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1998

Ivanova-Smolenskaia I A, Ovchinnikov I V, Illarioshkin S N, Markova E D, Kliushnikov S A, Nikol'skaia N N, Miklina N I

Abstract excerpt

Huntington's disease is characterized by autosomal dominant transmission and a complete penetrance of the mutant gene. Mutation in Huntington's disease consists in expansion of the unstable tandem CAG-trinucleotide repeats. This discovery allowed to perform a precise DNA diagnosis of the mutant g...

Topics

Aged
Alleles
Chromosomes, Human, Pair 4
DNA
Female
Genetic Carrier Screening
Genetic Testing
Humans
Huntington Disease
Male
Middle Aged
Nucleic Acid Amplification Techniques

Source

Open in PubMed

Identifiers

PMID: 9575625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9575625-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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