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Disease-Associated Variants of Microsomal Retinol Dehydrogenase 12 (RDH12) are degraded at Mutant-Specific Rates
Mutations in Retinol Dehydrogenase 12 (RDH12) cause severe retinal degeneration. However, some of the disease-associated RDH12 mutants retain significant catalytic activity, indicating the existence of additional pathophysiological mechanisms. This study demonstrates that the catalytically active T4...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2812597/ https://ncbi.nlm.nih.gov/pubmed/20006610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.febslet.2009.12.009 |
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