DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

ICF syndrome is a rare autosomal recessive disorder that is characterized by Immunodeficiency, Centromeric instability, and Facial anomalies. In all, 60% of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In ICF cells, constitutive...

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Detalhes bibliográficos
Main Authors: Lana, Erica, Mégarbané, André, Tourrière, Hélène, Sarda, Pierre, Lefranc, Gérard, Claustres, Mireille, De Sario, Albertina
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3449075/
https://ncbi.nlm.nih.gov/pubmed/22378288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.41
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