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Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort

BACKGROUND: Spinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than in other regions as observed from hospital-based studies. However there are...

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Detalles Bibliográficos
Autores principales: Kumaran, Dhanya, Balagopal, Krishnan, Tharmaraj, Reginald George Alex, Aaron, Sanjith, George, Kuryan, Muliyil, Jayaprakash, Sivadasan, Ajith, Danda, Sumita, Alexander, Mathew, Hasan, Gaiti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411758/
https://www.ncbi.nlm.nih.gov/pubmed/25344417
http://dx.doi.org/10.1186/s12881-014-0114-5