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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 in...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Beygo, Jasmin, Küchler, Alma, Gillessen-Kaesbach, Gabriele, Albrecht, Beate, Eckle, Jonas, Eggermann, Thomas, Gellhaus, Alexandra, Kanber, Deniz, Kordaß, Ulrike, Lüdecke, Hermann-Josef, Purmann, Sabine, Rossier, Eva, van de Nes, Johannes, van der Werf, Ilse M, Wenzel, Maren, Wieczorek, Dagmar, Horsthemke, Bernhard, Buiting, Karin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567157/
https://ncbi.nlm.nih.gov/pubmed/28635951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.91
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