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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Bibliografske podrobnosti
izdano v:PLoS One
Main Authors: Long, Ashlee, Napierala, Jill S., Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H., Lynch, David R., Napierala, Marek
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2017
Teme:
Research Article
Online dostop: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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