Article
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Human molecular genetics - 1 Apr 1992
Inglehearn C F, Keen T J, Bashir R, Jay M, Fitzke F, Bird A C, Crombie A, Bhattacharya S
Abstract excerpt
Recently it has been demonstrated that some families with autosomal dominant retinitis pigmentosa (adRP) have mutations in the rhodopsin gene while others do not. Previously we have identified six such mutations in seven adRP families in this laboratory, one of which was previously described in US patients. We now present a completed screen of the rhodopsin gene in a panel of 39 adRP families, by a rapid...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA
- Exons
- Genes, Dominant
- Genetic Testing
- Humans
- Lymphocytes
- Molecular Sequence Data
- Mutation