Article
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
Nature genetics - 1 Jul 1993
Dryja T P, Berson E L, Rao V R, Oprian D D
Abstract excerpt
A number of mutations in the rhodopsin gene have been shown to cause both dominant and recessive retinitis pigmentosa. Here we describe another phenotype associated with a defect in this gene. We discovered a patient with congenital stationary night blindness who carries the missense mutation Ala...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Blindness
- DNA
- Darkness
- Heterozygote
- Humans
- Male
- Models, Biological
- Molecular Sequence Data
- Mutation
- Rhodopsin
- Transducin