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Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3–9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were reported to cause intellectual disability syndromes such as Sotos, Weaver, or K...
Gespeichert in:
Veröffentlicht in: | Genes (Basel) |
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Hauptverfasser: | , , , , , , , , , |
Format: | Artigo |
Sprache: | Inglês |
Veröffentlicht: |
MDPI
2016
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Schlagworte: | |
Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5126782/ https://ncbi.nlm.nih.gov/pubmed/27834868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes7110096 |
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