Leber congenital amaurosis 01

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Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

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