A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber congenital amaurosis

Eduardo Silva, Sharola Dharmaraj, Ying Ying Li, Ana Luisa Pina, Robert Colin Carter, Magali Loyer, Elias Traboulsi, George Theodossiadis, Robert K. Koenekoop, Olof H. Sundin, Irene H. Maumenee

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Biochemistry, Genetics and Molecular Biology