De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation...

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Publicado en:Am J Hum Genet
Autores principales: Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375619/
https://ncbi.nlm.nih.gov/pubmed/25728775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.01.017
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