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The Severe Autosomal Dominant Retinitis Pigmentosa Rhodopsin Mutant Ter349Glu Mislocalizes and Induces Rapid Rod Cell Death
Mutations in the rhodopsin gene cause approximately one-tenth of retinitis pigmentosa cases worldwide, and most result in endoplasmic reticulum retention and apoptosis. Other rhodopsin mutations cause receptor mislocalization, diminished/constitutive activity, or faulty protein-protein interactions....
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| Main Authors: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Biochemistry and Molecular Biology
2013
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3790004/ https://ncbi.nlm.nih.gov/pubmed/23940033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.495184 |
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