Associated Papers
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2012
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
Karan S et al.
Molecular and Cellular Biochemistry, 2010
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
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