A novel mutation in exon 17 of the ?-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Life Sciences, Genetics, Genomics +16

Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase

Cathy Bowes, Tiansen Li, Michael Danciger et al. · Nature · 1990 · 858 citations

Medicine, Neuroscience, Ophthalmology +17

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

Margaret E. McLaughlin, Michael A. Sandberg, Eliot L. Berson et al. · Nature Genetics · 1993 · 606 citations

Medicine, Genetics, Molecular Genetics +17

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 · 425 citations

Medicine, Genetics, Molecular Genetics +17

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.

Michael L. Suber, Steven J. Pittler, Na Qin et al. · Proceedings of the National Academy of Sciences · 1993 · 283 citations

Medicine, Genetics, Molecular Genetics +16