Article
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Nature - 12 Dec 1991
Kajiwara K, Hahn L B, Mukai S, Travis G H, Berson E L, Dryja T P
Abstract excerpt
The murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of...
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