Article
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1991
Sung C H, Davenport C M, Hennessey J C, Maumenee I H, Jacobson S G, Heckenlively J R, Nowakowski R, Fishman G, Gouras P, Nathans J
Abstract excerpt
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of...
Topics
- Base Sequence
- DNA
- Female
- Genes
- Genes, Dominant
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Night Blindness
- Nucleic Acid Hybridization