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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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: Long, Ashlee, Napierala, Jill S., Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H., Lynch, David R., Napierala, Marek
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2017
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5736210/
https://ncbi.nlm.nih.gov/pubmed/29261783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0189990
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