A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu. [electronic resource]
Producer: 19970916Description: 63-70 p. digitalISSN:- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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