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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

Kabuki syndrome (KS) is caused by mutations in KMT2D, which is a histone methyltransferase involved in methylation of H3K4, a histone marker associated with DNA methylation. Analysis of >450,000 CpGs in 24 KS patients with pathogenic mutations in KMT2D and 216 controls, identified 24 genomic regi...

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Dades bibliogràfiques
Publicat a:Epigenetics
Autors principals: Aref-Eshghi, Erfan, Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Rodenhiser, David, Schwartz, Charles, Sadikovic, Bekim
Format: Artigo
Idioma:Inglês
Publicat: Taylor & Francis 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5788422/
https://ncbi.nlm.nih.gov/pubmed/28933623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15592294.2017.1381807
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