Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expans...

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Detalles Bibliográficos
Autores principales: Kraus-Perrotta, Cara, Lagalwar, Sarita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118900/
https://www.ncbi.nlm.nih.gov/pubmed/27895927
http://dx.doi.org/10.1186/s40673-016-0058-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118900/
https://www.ncbi.nlm.nih.gov/pubmed/27895927
http://dx.doi.org/10.1186/s40673-016-0058-y

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