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Article

[Molecular-genetic analysis of torsion dystonia in Russia].

Genetika - 1 Jul 2000

Markova E D, Slominskiĭ P A, Illarioshkin S N, Miklina N I, Shadrina M I, Popova S N, Limborskaia S A, Ivanova-Smolenskaia I A

Abstract excerpt

For the first time in Russia, analysis of the GCH-I and DYT1 genes was carried out for the purpose of direct DNA diagnostics in families with various forms of hereditary torsion dystonia (TD). Four new missense mutations (Met102Lys, Thr94Lys, Cys141Trp, and Ser176Thr) in the GCH-I gene were found in patients with dopa-responsive dystonia (DRD), testifying to a genetic heterogeneity of this clinical form of TD....

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PMID: 10994500

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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