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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 nucle...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472661/ https://www.ncbi.nlm.nih.gov/pubmed/26087139 http://dx.doi.org/10.1371/journal.pone.0129656 |