Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS Gene

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

R. Bruce Wallace, Merrie Jo Johnson, Tadaaki Hirose et al. · Nucleic Acids Research · 1981 · 475 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +7

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

John A. Wells, John J. Wroblewski, Jeffrey Keen et al. · Nature Genetics · 1993 · 438 citations

Medicine, Genetics, Molecular Genetics +12

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

Richard G. Weleber · Archives of Ophthalmology · 1993 · 330 citations

Life Sciences, Genetics, Ophthalmology +16

Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Brian E. Nichols, Val C. Sheffield, Kimberlie Vandenburgh et al. · Nature Genetics · 1993 · 278 citations

Life Sciences, Genetics, Molecular Genetics +12