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KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
Autosomal dominant mutations in BTB and Kelch domain containing 13 protein (KBTBD13) are associated with a new type of Nemaline Myopathy (NEM). NEM is a genetically heterogeneous group of muscle disorders. Mutations causing phenotypically distinct NEM variants have previously been identified in comp...
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| Publicado en: | Biochem Biophys Res Commun |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2012
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5148137/ https://ncbi.nlm.nih.gov/pubmed/22542517 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2012.04.074 |
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