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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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| Publicado no: | PLoS One |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2017
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| Assuntos: | |
| Acesso em linha: | 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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