Mutations in a new photoreceptor-pineal gene on 17p cause Leber’s congenital amaurosis

Human genetics, Neurodegeneration, Retina

Sohocki M M, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, BhattacharyaSS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP. Nat Genet 2000 24:79

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber’s congenital amaurosis