A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS

BACKGROUND: The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in ATXN2 other than pathological cytosine adenine guanine (CAG) repeats are unknown. METHODS/R...

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Detalles Bibliográficos
Autores principales: Laffita‐Mesa, Jose Miguel, Nennesmo, Inger, Paucar, Martin, Svenningsson, Per
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983901/
https://www.ncbi.nlm.nih.gov/pubmed/33058338
http://dx.doi.org/10.1002/mds.28334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983901/
https://www.ncbi.nlm.nih.gov/pubmed/33058338
http://dx.doi.org/10.1002/mds.28334

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