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Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus

BACKGROUND: Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing. Bisulfite sequencing studies have identified 5-methylcytosine (5mC) DNA methylation as one of the epigenetic changes...

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Detalles Bibliográficos
Autores principales: Al-Mahdawi, Sahar, Sandi, Chiranjeevi, Mouro Pinto, Ricardo, Pook, Mark A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762780/
https://www.ncbi.nlm.nih.gov/pubmed/24023969
http://dx.doi.org/10.1371/journal.pone.0074956