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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...
Kaydedildi:
Yayımlandı: | Am J Hum Genet |
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Asıl Yazarlar: | , , , , , , , , , , , , , , , , , |
Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Elsevier
2015
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Konular: | |
Online Erişim: | 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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