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...

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Detalles Bibliográficos
Autores principales: Greene, Eriko, Mahishi, Lata, Entezam, Ali, Kumari, Daman, Usdin, Karen
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Genomics
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

Internet

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

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