Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy

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 w...

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Detalles Bibliográficos
Autores principales: Miyadera, Keiko, Brierley, Ian, Aguirre-Hernández, Jesús, Mellersh, Cathryn S., Sargan, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520932/
https://www.ncbi.nlm.nih.gov/pubmed/23251588
http://dx.doi.org/10.1371/journal.pone.0051598

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520932/
https://www.ncbi.nlm.nih.gov/pubmed/23251588
http://dx.doi.org/10.1371/journal.pone.0051598

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