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DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

BACKGROUND: Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinica...

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Detalles Bibliográficos
Autores principales: Camargo, Carlos Henrique F., Camargos, Sarah Teixeira, Raskin, Salmo, Cardoso, Francisco Eduardo C., Teive, Hélio Afonso G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992363/
https://www.ncbi.nlm.nih.gov/pubmed/24757586
http://dx.doi.org/10.7916/D83776RC