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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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| Pubblicato in: | J Biol Chem |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2017
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| Soggetti: | |
| 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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