Article
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.
Proceedings of the National Academy of Sciences of the United States of America - 17 Mar 1998
Khani S C, Nielsen L, Vogt T M
Abstract excerpt
Rhodopsin kinase (RK), a rod photoreceptor cytosolic enzyme, plays a key role in the normal deactivation and recovery of the photoreceptor after exposure to light. To date, three different mutations in the RK locus have been associated with Oguchi disease, an autosomal recessive form of stationary night blindness in man characterized in part by delayed photoreceptor recovery [Yamamoto, S. , Sippel, K. C., Berson,...
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