Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

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 tra...

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Bibliographic Details
Main Authors: Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5736210?pdf=render

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http://europepmc.org/articles/PMC5736210?pdf=render

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