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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Pubblicato in:Genet Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group US 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687501/
https://ncbi.nlm.nih.gov/pubmed/30635621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0416-7
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