Clinical Features of Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Gene Codon 17 Mutation and Retinal Neovascularization in a Japanese Patient

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Thaddeus P. Dryja, Terri L. McGee, Elias Reichel et al. · Nature · 1990 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

Ching‐Hwa Sung, Barbara Schneider, Neeraj Agarwal et al. · Proceedings of the National Academy of Sciences · 1991 · 497 citations

Life Sciences, Genetics, Molecular Biology +10

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Kazuto Kajiwara, Lauri B. Hahn, Shizuo Mukai et al. · Nature · 1991 · 473 citations

Medicine, Genetics, Ophthalmology +14

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

G. Jane Farrar, Paul F. Kenna, Siobhán A. Jordan et al. · Nature · 1991 · 389 citations

Medicine, Genetics, Molecular Genetics +7

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 · 372 citations

Medicine, Genetics, Molecular Genetics +17