Laddar...
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...
Sparad:
| I publikationen: | Proc Natl Acad Sci U S A |
|---|---|
| Huvudupphovsmän: | , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
National Academy of Sciences
2018
|
| Ämnen: | |
| Länkar: | 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 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|