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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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| Veröffentlicht in: | PLoS One |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Public Library of Science
2017
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| Schlagworte: | |
| Online Zugang: | 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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