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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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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2017
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Accesso online: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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