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Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority of FRDA mutations involve expansion of a GAA•TTC-repeat tract in intron 1, which leads to an FXN mRNA deficit. Bisulfite mapping demonstrates that the region adjacent to...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2007
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904289/ https://www.ncbi.nlm.nih.gov/pubmed/17478498 http://dx.doi.org/10.1093/nar/gkm271 |