Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases. A certain level of CREB-binding protein is essential for normal development, since inactivation of on...

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Main Authors: Roelfsema, Jeroen H., White, Stefan J., Ariyürek, Yavuz, Bartholdi, Deborah, Niedrist, Dunja, Papadia, Francesco, Bacino, Carlos A., den Dunnen, Johan T., van Ommen, Gert-Jan B., Breuning, Martijn H., Hennekam, Raoul C., Peters, Dorien J. M.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2005
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199295/
https://ncbi.nlm.nih.gov/pubmed/15706485
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