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Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.

著者 Matsubara K , Itoh M , Shimizu K , Saito S , Enomoto K , Nakabayashi K , Hata K , Kurosawa K , Ogata T , Fukami M , Kagami M
Clin Epigenetics.2019 Feb 28 ; 11(1):36.
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Human 15q11-13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These concertedly confer allele specificity on 15q11-13. Here, we report DNA methylation status of 15q11-13 and other autosomal imprinted differentially methylated regions (iDMRs) in cases with various deletions within the PWS/AS-responsible region.
PMID: 30819260 [PubMed - in process]
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