A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu. [electronic resource]
- Ophthalmic genetics Jun 1997
- 63-70 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1381-6810
Adult Chromosome Aberrations Chromosome Disorders Electroretinography Exons--genetics Eye Diseases, Hereditary--genetics Family Health Female Genes, Dominant--genetics Genetic Testing Heterozygote Humans Male Middle Aged Pedigree Phenotype Point Mutation--genetics Proline--genetics Retinitis Pigmentosa--genetics Rhodopsin--genetics Sequence Analysis, DNA Sweden Visual Acuity--genetics