Article
Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 1994
Nakazawa M, Kikawa E, Kamio K, Chida Y, Shiono T, Tamai M
Abstract excerpt
OBJECTIVE: To identify phenotypic characteristics of a certain mutation in the peripherin/RDS gene. DESIGN: Case reports with clinical features and results of fluorescein angiography, electroretinography, kinetic visual field testing, dark adaptometry, and DNA analysis. SETTING: University medica...
Topics
- Adult
- Asparagine
- Base Sequence
- Child
- Codon
- Female
- Genes, Dominant
- Humans
- Intermediate Filament Proteins
- Lysine
- Male
- Membrane Glycoproteins
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Neuropeptides
- Pedigree