Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

doi:10.1073/pnas.95.12.7103

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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,...

Topics

Adult
Alleles
Humans
Mutation
Retinal Cone Photoreceptor Cells
Retinal Degeneration
Retinal Rod Photoreceptor Cells
Rhodopsin

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