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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Principais autores:	Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Format:	Artigo
Jezik:	Inglês
Izdano:	Wolters Kluwer Medknow Publications 2017-01-01
Serija:	Oman Journal of Ophthalmology
Teme:	Emirati PDE6A retinitis pigmentosa whole-exome sequencing
Online dostop:	http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=3;spage=228;epage=231;aulast=Nair
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