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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an imprinting disorder caused by genetic or epigenetic alterations of one or both imprinting control regions on chromosome 11p15.5. Hypomethylation of the centromeric imprinting control region (KCNQ1OT1:TSS-DMR, ICR2) is the most common molecular ca...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Beygo, Jasmin, Bürger, Joachim, Strom, Tim M., Kaya, Sabine, Buiting, Karin
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777634/
https://ncbi.nlm.nih.gov/pubmed/30778172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0365-x
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