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...
Saved in:
| 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 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Mitochondrial functional impairment in ARL3‐mutation related rod‐cone dystrophy
by: Xiaoli Zhang, et al.
Published: (2024-11-01) -
Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies
by: Cardillia-Joe Simon, et al.
Published: (2025-04-01) -
Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing
by: Chen Q, et al.
Published: (2025-06-01) -
Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study
by: Alexis Ceecee Britten-Jones, BOptom (Hons), PhD, et al.
Published: (2025-03-01) -
A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review
by: Pei-Liang Wu, et al.
Published: (2024-12-01)