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The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65
Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B. In the retina, the majority of MYO7A is in the retinal pigmented epithelium (RPE), where many of the reactions of the visual retinoid cycle take place. We have observed that the retinas of Myo7a-mutant mice ar...
Autores principales: | Lopes, Vanda S., Gibbs, Daniel, Libby, Richard T., Aleman, Tomas S., Welch, Darcy L., Lillo, Concepción, Jacobson, Samuel G., Radu, Roxana A., Steel, Karen P., Williams, David S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110002/ https://www.ncbi.nlm.nih.gov/pubmed/21493626 http://dx.doi.org/10.1093/hmg/ddr155 |
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