GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy

GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy

Abstract Progressive retinal atrophy (PRA), caused by aberrant functioning of rod/cone photoreceptors, leads to blindness affecting mammals, including dogs. We identified a litter of three Labrador retrievers affected by non-syndromic PRA; the parents and three other siblings were unaffected. Homozy...

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Bibliographic Details
Main Authors: Leonardo Murgiano, Jessica K Niggel, Eylem Emek Akyürek, Roberta Sacchetto, Gustavo D. Aguirre
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
Subjects:
Animal model
Non-syndromic
Protein domain
Progressive retinal atrophy
Protein function
Phenotype variability
Online Access:https://doi.org/10.1038/s41598-025-89446-7
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