A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.

Ponjavic, V

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