Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72...

Descripción completa

Detalles Bibliográficos
Autores principales: Aydin, Gülsah, Dekomien, Gabriele, Hoffjan, Sabine, Gerding, Wanda Maria, Epplen, Jörg T., Arning, Larissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761156/
https://www.ncbi.nlm.nih.gov/pubmed/29316893
http://dx.doi.org/10.1186/s12883-017-1009-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761156/
https://www.ncbi.nlm.nih.gov/pubmed/29316893
http://dx.doi.org/10.1186/s12883-017-1009-9

Ejemplares similares