Article
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
PloS one - 1 Jan 2015
Golanska Ewa, Gajos Agata, Sieruta Monika, Szybka Malgorzata, Rudzinska Monika, Ochudlo Stanislaw, Kmiec Tomasz, Liberski Pawel P, Bogucki Andrzej
Abstract excerpt
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 nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in two patients, and...
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