Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Keywords: Cyclic GMP; Genotype-phenotype correlation; Guanylate cyclase; GUCY2D; Mutation; Photoreceptor; Retinal diseases; AAV; adeno-associated virus; ad; autosomal dominant; ar; autosomal recessive; BSP; bone spicule-like pigmentation; CCD; cyclase catalytic dom