Article
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.
Proceedings of the National Academy of Sciences of the United States of America - 9 Jun 1998
Cideciyan A V, Hood D C, Huang Y, Banin E, Li Z Y, Stone E M, Milam A H, Jacobson S G
Abstract excerpt
Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, lead to retinal degeneration in species from Drosophila to man. The pathogenic sequence from rod cell-specific mutation to degeneration of rods and cones remains unclear. To understand the disease process in man, we studied heterozygotes with 18 different rhodopsin gene mutations by using noninvasive tests of rod and cone function...
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