Article
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Investigative ophthalmology & visual science - 9 May 2011
Mackay Donna S, Ocaka Louise A, Borman Arundhati Dev, Sergouniotis Panagiotis I, Henderson Robert H, Moradi Phillip, Robson Anthony G, Thompson Dorothy A, Webster Andrew R, Moore Anthony T
Abstract excerpt
PURPOSE: To investigate the prevalence of sequence variants in the gene SPATA7 in patients with Leber congenital amaurosis (LCA) and autosomal recessive, severe, early-onset retinal dystrophy (EORD) and to delineate the ocular phenotype associated with SPATA7 mutations. METHODS: Patients underwent standard ophthalmic evaluation after providing informed consent. One hundred forty-one DNA samples from patients with...
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