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 position 2420 results in a stop codon. This is the only disease causing mutation detected so far in the canine PDE6B gene....
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