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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2015
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209/ https://www.ncbi.nlm.nih.gov/pubmed/26132880 http://dx.doi.org/10.1017/erm.2015.11

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