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UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase

Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer from Kaufman oculocerebrofacial syndrome (KOS, also reported as blepharophimosis-ptosis-inte...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Braganza, Andrea, Li, Jianfeng, Zeng, Xuemei, Yates, Nathan A., Dey, Nupur B., Andrews, Joel, Clark, Jennifer, Zamani, Leila, Wang, Xiao-hong, St. Croix, Claudette, O'Sullivan, Roderick, Garcia-Exposito, Laura, Brodsky, Jeffrey L., Sobol, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5313114/
https://ncbi.nlm.nih.gov/pubmed/28003368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.766824
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