Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Methylation of the fragile X-related epigenetic element 2 (FREE2) located on the exon 1/intron 1 boundary of the FMR1 gene is related to FMRP expression and cognitive impairment in full mutation (FM; CGG>200) individuals. We examined the relationship between age, the size of the FMR1 CGG expansio...

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Autori principali: Godler, David E., Inaba, Yoshimi, Shi, Elva Z., Skinner, Cindy, Bui, Quang M., Francis, David, Amor, David J., Hopper, John L., Loesch, Danuta Z., Hagerman, Randi J., Schwartz, Charles E., Slater, Howard R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2013
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3605829/
https://ncbi.nlm.nih.gov/pubmed/23307923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt002
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