Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

BACKGROUND: Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain....

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Detalhes bibliográficos
Publicado no:Cerebellum Ataxias
Main Authors: González-Zaldívar, Yanetza, Vázquez-Mojena, Yaimeé, Laffita-Mesa, José M, Almaguer-Mederos, Luis E, Rodríguez-Labrada, Roberto, Sánchez-Cruz, Gilberto, Aguilera-Rodríguez, Raúl, Cruz-Mariño, Tania, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4552099/
https://ncbi.nlm.nih.gov/pubmed/26331044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0020-4
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