Article
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
American journal of human genetics - 1 Jul 1993
Macke J P, Davenport C M, Jacobson S G, Hennessey J C, Gonzalez-Fernandez F, Conway B P, Heckenlively J, Palmer R, Maumenee I H, Sieving P
Abstract excerpt
Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness. Eight of these mutations (gly51-to-ala, val104-to-ile, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, val209-to-met, and his211-to-arg) produce amino acid substitutions, one (gln64-to-ter) introduces...
Topics
- Alleles
- Blindness
- DNA Mutational Analysis
- Female
- Gene Frequency
- Humans
- Male
- Mutation
- Night Blindness
- Pedigree
- Polymerase Chain Reaction