Somatic instability of the expanded GAA repeats in Friedreich’s ataxia

Friedreich’s ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts a...

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Detalles Bibliográficos
Autores principales: Long, Ashlee, Napierala, Jill S., Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H., Lynch, David R., Napierala, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736210/
https://www.ncbi.nlm.nih.gov/pubmed/29261783
http://dx.doi.org/10.1371/journal.pone.0189990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736210/
https://www.ncbi.nlm.nih.gov/pubmed/29261783
http://dx.doi.org/10.1371/journal.pone.0189990

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