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Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.
Lopes, Sara M; Faro, Rosário; Lopes, Miguel M; Onofre, Isabel; Mendonça, Nuno; Ribeiro, Joana; Januário, Cristina; Nobre, Rui Jorge; Pereira de Almeida, Luís.
Afiliación
  • Lopes SM; Doctoral Programme in Experimental Biology and Biomedicine, Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra
  • Faro R; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Lopes MM; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Onofre I; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.
  • Mendonça N; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Department of Neurology, Coimbra University Hospital Center, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Ribeiro J; Department of Neurology, Coimbra University Hospital Center, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Januário C; Department of Neurology, Coimbra University Hospital Center, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Nobre RJ; Institute for Interdisciplinary Research, University of Coimbra, Coimbra, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Viral Vectors for Gene Transfer Core Facility, University of Coimbra, Coimbra, Portugal. Electronic address: rui.nobre@cnc.uc.pt.
  • Pereira de Almeida L; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal; Viral Vectors for Gene Transfer Core Facility, University of Coimbra, Coimbra, Portugal. Electronic address: luispa@cnc.uc.pt.
J Mol Diagn ; 22(6): 782-793, 2020 06.
Article en En | MEDLINE | ID: mdl-32205289
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Adenina / Enfermedad de Machado-Joseph / Expansión de Repetición de Trinucleótido / Polimorfismo de Nucleótido Simple / Citosina / Ataxina-3 / Guanina Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Adenina / Enfermedad de Machado-Joseph / Expansión de Repetición de Trinucleótido / Polimorfismo de Nucleótido Simple / Citosina / Ataxina-3 / Guanina Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos