Article
An improved diagnostic test for rod cone dysplasia 1 (rcd1) using allele-specific polymerase chain reaction.
Current eye research - 1 May 1996
Ray K, Tejero M D, Baldwin V J, Aguirre G D
Abstract excerpt
PURPOSE: To develop an improved diagnostic test for rod-cone dysplasia type 1 (rcd1). The rcd1 phenotype is an early onset, autosomal recessive disease caused by a mutation in the canine rod cyclic GMP phosphodiesterase beta-subunit (PDE6B) gene. A G to A transition in codon 807 at nucleotide pos...
Topics
- 3',5'-Cyclic-GMP Phosphodiesterases
- Alleles
- Animals
- Base Sequence
- Cyclic Nucleotide Phosphodiesterases, Type 6
- DNA Primers
- Dog Diseases
- Dogs
- Evaluation Studies as Topic
- Genes, Recessive
- Mutation
- Phenotype
- Phosphoric Diester Hydrolases
- Polymerase Chain Reaction
- Retinal Degeneration