Article
Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa.
Human genetics - 1 Nov 1992
Horn M, Humphries P, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, Zrenner E, Kenna P, Gal A, Farrar J
Abstract excerpt
By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer....
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- Exons
- Female
- Gene Deletion
- Genes, Dominant
- Humans
- Male