Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

Abstract excerpt

UNLABELLED: Mutations in RPGRIP1 are associated with early onset retinal degenerations in humans and dogs. Dogs homozygous for a 44 bp insertion including a polyA(29) tract potentially leading to premature truncation of the protein, show cone rod degeneration. This is rapid and blinding in a colony of dogs in which the mutation was characterised but in dogs with the same mutation in the pet population there is...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Dog Diseases
• Share to Electrophoresis, Capillary