Article
RDH12 retinopathy: novel mutations and phenotypic description.
Molecular vision - 1 Jan 2011
Mackay Donna S, Dev Borman Arundhati, Moradi Phillip, Henderson Robert H, Li Zheng, Wright Genevieve A, Waseem Naushin, Gandra Mamatha, Thompson Dorothy A, Bhattacharya Shomi S, Holder Graham E, Webster Andrew R, Moore Anthony T
Abstract excerpt
PURPOSE: To identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype. METHODS: After giving informed consent, all patients underwent full clinical evaluation. Patients were selected for mutation analysis based upon positive results from the Asper Ophthalmics Leber congenital amaurosis arrayed primer...
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