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 gene carriers. Direct DNA diagnosis has a special importance in sporadic cases of the disease. We performed direct DNA...
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