Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-l...

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Publié dans:Expert Rev Mol Med
Auteurs principaux: Godler, David E., Inaba, Yoshimi, Schwartz, Charles E., Bui, Quang M., Shi, Elva Z., Li, Xin, Herlihy, Amy S., Skinner, Cindy, Hagerman, Randi J., Francis, David, Amor, David J., Metcalfe, Sylvia A., Hopper, John L., Slater, Howard R.
Format: Artigo
Langue:Inglês
Publié: Cambridge University Press 2015
Sujets:
Review Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4836209/
https://ncbi.nlm.nih.gov/pubmed/26132880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/erm.2015.11
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