Article
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
Genomics - 1 Nov 1995
Danciger M, Blaney J, Gao Y Q, Zhao D Y, Heckenlively J R, Jacobson S G, Farber D B
Abstract excerpt
We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Adult
- Base Sequence
- Electrophoresis
- Female
- Genes, Recessive
- Haplotypes
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Single-Stranded Conformational
- Retinitis Pigmentosa
- Sequence Analysis, DNA