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...

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Detalles Bibliográficos
Autores principales: Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A., Jones, Julie R., Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D. J., Layman, Lawrence C., Wenzel, Wolfgang, Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126782/
https://www.ncbi.nlm.nih.gov/pubmed/27834868
http://dx.doi.org/10.3390/genes7110096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126782/
https://www.ncbi.nlm.nih.gov/pubmed/27834868
http://dx.doi.org/10.3390/genes7110096

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