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Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7

Spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by an abnormal CAG repeat expansion in the ATXN7 gene coding region. The onset and severity of SCA7 are highly variable between patients, thus identification of se...

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Detalles Bibliográficos
Autores principales: Nambo-Venegas, Rafael, Valdez-Vargas, Claudia, Cisneros, Bulmaro, Palacios-González, Berenice, Vela-Amieva, Marcela, Ibarra-González, Isabel, Cerecedo-Zapata, César M., Martínez-Cruz, Emilio, Cortés, Hernán, Reyes-Grajeda, Juan P., Magaña, Jonathan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175318/
https://www.ncbi.nlm.nih.gov/pubmed/32138195
http://dx.doi.org/10.3390/biom10030390