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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Genet Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2019
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars