مقال بحثي وصول مفتوح
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. The molecular analys …