CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

Aberrant photoreceptor function or morphogenesis leads to blinding retinal degenerative diseases, the majority of which have a genetic aetiology. A variant in PRCD previously identified in Portuguese Water Dogs (PWDs) underlies prcd (progressive rod-cone degeneration), an autosomal recessive progres...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Murgiano, Leonardo, Becker, Doreen, Spector, Courtney, Carlin, Kendall, Santana, Evelyn, Niggel, Jessica K., Jagannathan, Vidhya, Leeb, Tosso, Pearce-Kelling, Sue, Aguirre, Gustavo D., Miyadera, Keiko
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7712861/
https://ncbi.nlm.nih.gov/pubmed/33273526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-77980-5
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