The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in individuals with Indigenous American or East Asian ancestry, with strong evidence supporting a founder effect. The mutation causing SCA10...

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Detalles Bibliográficos
Autores principales: Kurosaki, Tatsuaki, Ashizawa, Tetsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528567/
https://www.ncbi.nlm.nih.gov/pubmed/36199580
http://dx.doi.org/10.3389/fgene.2022.936869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528567/
https://www.ncbi.nlm.nih.gov/pubmed/36199580
http://dx.doi.org/10.3389/fgene.2022.936869

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