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Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine

In fragile X syndrome, hypermethylation of the expanded CGG repeat and of the upstream promoter leads to transcriptional silencing of the FMR1 gene. Absence of the FMR1 protein results in mental retardation. We previously proved that treatment with 5-azadeoxycytidine (5-azadC) of fragile X cell line...

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Publicado en:Nucleic Acids Res
Autores principales: Pietrobono, Roberta, Pomponi, Maria Grazia, Tabolacci, Elisabetta, Oostra, Ben, Chiurazzi, Pietro, Neri, Giovanni
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2002
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC135754/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12136110/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/gkf434
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