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...

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Detalles Bibliográficos
Autores principales: Golanska, Ewa, Gajos, Agata, Sieruta, Monika, Szybka, Malgorzata, Rudzinska, Monika, Ochudlo, Stanislaw, Kmiec, Tomasz, Liberski, Pawel P., Bogucki, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
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

Internet

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

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