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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Detalles Bibliográficos
Autores principales: Nair, Pratibha, Hamzeh, Abdul Rezzak, Malik, Ethar Mustafa, Oberoi, Darshjit, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657168/
https://www.ncbi.nlm.nih.gov/pubmed/29118501
http://dx.doi.org/10.4103/ojo.OJO_213_2016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657168/
https://www.ncbi.nlm.nih.gov/pubmed/29118501
http://dx.doi.org/10.4103/ojo.OJO_213_2016

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