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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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Autors principals: Shen, Sherry, Sujirakul, Tharikarn, Tsang, Stephen H.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Accés en línia: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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