Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.

The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single...

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Main Authors: Ewa Golanska, Agata Gajos, Monika Sieruta, Malgorzata Szybka, Monika Rudzinska, Stanislaw Ochudlo, Tomasz Kmiec, Pawel P Liberski, Andrzej Bogucki
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0129656

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https://doi.org/10.1371/journal.pone.0129656

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