Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated to mutations of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chro...

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Hlavní autoři: Heyn, Holger, Vidal, Enrique, Sayols, Sergi, Sanchez-Mut, Jose V., Moran, Sebastian, Medina, Ignacio, Sandoval, Juan, Simó-Riudalbas, Laia, Szczesna, Karolina, Huertas, Dori, Gatto, Sole, Matarazzo, Maria R., Dopazo, Joaquin, Esteller, Manel
Médium: Artigo
Jazyk:Inglês
Vydáno: Landes Bioscience 2012
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Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398983/
https://ncbi.nlm.nih.gov/pubmed/22595875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/epi.20523
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