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Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms....
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| Publicado no: | Oman J Ophthalmol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5657168/ https://ncbi.nlm.nih.gov/pubmed/29118501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ojo.OJO_213_2016 |
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