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De novo mutation in RING1 with epigenetic effects on neurodevelopment

RING1 is an E3-ubiquitin ligase that is involved in epigenetic control of transcription during development. It is a component of the polycomb repressive complex 1, and its role in that complex is to ubiquitylate histone H2A. In a 13-year-old girl with syndromic neurodevelopmental disabilities, we id...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Pierce, Sarah B., Stewart, Mikaela D., Gulsuner, Suleyman, Walsh, Tom, Dhall, Abhinav, McClellan, Jon M., Klevit, Rachel E., King, Mary-Claire
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5816211/
https://ncbi.nlm.nih.gov/pubmed/29386386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1721290115
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