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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms un...

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Detalles Bibliográficos
Autores principales:	Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687501/ https://www.ncbi.nlm.nih.gov/pubmed/30635621 http://dx.doi.org/10.1038/s41436-018-0416-7

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