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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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Pubblicato in:Hum Mol Genet
Autori principali: Esanov, Rustam, Andrade, Nadja S., Bennison, Sarah, Wahlestedt, Claes, Zeier, Zane
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2016
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Accesso online: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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