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The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients

Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism. Full mutations larger than 200 CGG repeats trigger FMR1 heterochromatinization and loss of gene expression, which is primarily re...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Esanov, Rustam, Andrade, Nadja S., Bennison, Sarah, Wahlestedt, Claes, Zeier, Zane
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6078593/
https://ncbi.nlm.nih.gov/pubmed/28173181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw311
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