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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by disturbances of the chromosomal region 11p15.5. The most frequent molecular finding in BWS is loss of methylation (LOM) of the Imprinting Centre 2 (IC2) region on the maternal allele, which is localised in intron 10 of...

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Detaylı Bibliyografya
Yayımlandı:Clin Epigenetics
Asıl Yazarlar: Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216698/
https://ncbi.nlm.nih.gov/pubmed/32393365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-020-00856-y
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