Article
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
Science (New York, N.Y.) - 10 Jun 1994
Kajiwara K, Berson E L, Dryja T P
Abstract excerpt
In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygo...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Electroretinography
- Eye Proteins
- Female
- Genes, Dominant
- Genes, Recessive
- Genetic Linkage
- Heterozygote
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins