Article
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Nature genetics - 1 Mar 1993
Kajiwara K, Sandberg M A, Berson E L, Dryja T P
Abstract excerpt
The murine rds (retinal degeneration slow) allele is a semidominant null allele that causes photoreceptor degeneration. The wild-type sequence at the rds locus encodes a photoreceptor disc membrane protein named peripherin/RDS. Mutations in the homologous human peripherin/RDS gene can cause autos...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Electroretinography
- Eye Proteins
- Female
- Fluorescein Angiography
- Genes, Dominant
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Mice
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins