Article
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
American journal of human genetics - 1 Dec 1990
Farrar G J, Kenna P, Redmond R, McWilliam P, Bradley D G, Humphries M M, Sharp E M, Inglehearn C F, Bashir R, Jay M
Abstract excerpt
In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- Europe
- Exons
- Female
- Genes, Dominant
- Histidine
- Humans
- Male
- Molecular Sequence Data