Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. [electronic resource]
Producer: 20090226Description: 518-530.e1 p. digitalISSN:- 1879-1891
- Adolescent
- Adult
- Aged
- Child
- Color Perception Tests
- DNA Mutational Analysis
- Diseases in Twins -- genetics
- Electroretinography
- Female
- Fluorescein Angiography
- Follow-Up Studies
- Humans
- Intermediate Filament Proteins -- genetics
- Male
- Membrane Glycoproteins -- genetics
- Mutation
- Nerve Tissue Proteins -- genetics
- Peripherins
- Phenotype
- Polymerase Chain Reaction
- Retinal Degeneration -- diagnosis
- Retrospective Studies
- Tomography, Optical Coherence
- Twins, Monozygotic -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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