A novelnull mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa

Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments.

Ursula Wilden, S W Hall, H. Kühn · Proceedings of the National Academy of Sciences · 1986 · 789 citations · Full text

Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Thaddeus P. Dryja, Terri L. McGee, Lauri B. Hahn et al. · New England Journal of Medicine · 1990 · 498 citations

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Ching‐Hwa Sung, Carol Davenport, Jill C. Hennessey et al. · Proceedings of the National Academy of Sciences · 1991 · 466 citations · Full text

Ocular Disease, Photoreceptor Cell, Rhodopsin Mutations +15

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

Philip J. Rosenfeld, Glenn S. Cowley, Terri L. McGee et al. · Nature Genetics · 1992 · 423 citations

Photoreceptor Cell, Retina, Ophthalmology +8

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Thaddeus P. Dryja, Lauri B. Hahn, Glenn S. Cowley et al. · Proceedings of the National Academy of Sciences · 1991 · 370 citations · Full text

Molecular Diagnostic Techniques, Mutant Amino Acids, Mendelian Disorder +13