Article
[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].
Klinische Monatsblatter fur Augenheilkunde - 1 May 1998
Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet D F, Munier F
Abstract excerpt
PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate g...
Topics
- Adult
- Aged
- Aged, 80 and over
- DNA Mutational Analysis
- Eye Proteins
- Female
- Fluorescein Angiography
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Membrane Proteins
- Middle Aged
- Nerve Tissue Proteins
- Pedigree
- Peripherins
- Phenotype
- Retinal Degeneration