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

<h4>Unlabelled</h4>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 bl...

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Bibliographic Details
Main Authors: Keiko Miyadera, Ian Brierley, Jesús Aguirre-Hernández, Cathryn S Mellersh, David R Sargan
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0051598&type=printable
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