Article
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.
Experimental eye research - 1 Feb 1996
Gao Y Q, Danciger M, Zhao D Y, Blaney J, Piriev N I, Shih J, Jacobson S G, Heckenlively J H, Farber D B
Abstract excerpt
Each of the 22 exons and 140 bp of the 5' untranslated region of the gene encoding the beta-subunit of cGMP-phosphodiesterase (PDE6B) were screened by denaturing gradient gel electrophoresis for mutations in the DNAs of 54 unrelated individuals with autosomal dominant retinitis pigmentosa. Six di...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Base Sequence
- Blotting, Northern
- Cyclic Nucleotide Phosphodiesterases, Type 6
- DNA Primers
- Exons
- Gene Expression
- Genes, Dominant
- Genetic Variation
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Phosphoric Diester Hydrolases
- RNA Splicing
- Retinitis Pigmentosa