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Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase
PURPOSE: To report the phenotypes caused by a novel mutation in the PDE6B gene in a family with two affected siblings and one affected cousin with a 2-year follow-up. DESIGN: Three patients from a family with a history of retinitis pigmentosa underwent clinical evaluations. The affected patients’ DN...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4130765/ https://ncbi.nlm.nih.gov/pubmed/24828262 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2014.915328 |
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