Article
Polymorphisms and rare sequence variants at the ROM1 locus.
Human molecular genetics - 1 Nov 1993
Bascom R A, Liu L, Humphries P, Fishman G A, Murray J C, McInnes R R
Abstract excerpt
Rom-1 is an integral membrane protein of the rod photoreceptor outer segment. The ROM1 gene is located on human chromosome 11q13, a region to which the loci of four degenerative retinopathies have been mapped. To identify alleles of ROM1, we have screened the DNA of 57 controls and 180 patients w...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- DNA Primers
- Deoxyribonuclease HindIII
- Deoxyribonucleases, Type II Site-Specific
- Eye Proteins
- Genetic Variation
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Restriction Mapping
- Retinal Diseases