Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 666 citations

Medicine, Genetics, Molecular Genetics +10

Retinitis pigmentosa. The Friedenwald Lecture.

Eliot L. Berson · PubMed · 1993 · 643 citations

Medicine, Ophthalmology, Pathology +9

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