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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| Principais autores: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science (PLoS)
2017-01-01
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| Serier: | PLoS ONE |
| Online adgang: | https://doi.org/10.1371/journal.pone.0189990 |
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