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Article

Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.

Journal of neurology - 1 Apr 2013

Dobričić Valerija S, Kresojević Nikola D, Svetel Marina V, Janković Milena Z, Petrović Igor N, Tomić Aleksandra D, Novaković Ivana V, Kostić Vladimir S

Abstract excerpt

Primary dystonia (PrD) is characterized by sustained muscle contractions, causing twisting and repetitive movements and abnormal postures. Besides DYT1/TOR1A gene, DYT6/THAP1 gene is the second gene known to cause primary pure dystonia. We screened 281 Serbian primary dystonia patients and 106 neurologically healthy control individuals for the GAG deletion in TOR1A gene and for mutations in THAP1 gene by direct...

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Source

Identifiers

PMID: 23180184
DOI: 10.1007/s00415-012-6753-6

Genes

THAP1

Provenance

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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