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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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| Publicado no: | J Biol Chem |
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| Main Authors: | , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Biochemistry and Molecular Biology
2017
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| 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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