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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712861/
https://www.ncbi.nlm.nih.gov/pubmed/33273526
http://dx.doi.org/10.1038/s41598-020-77980-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712861/
https://www.ncbi.nlm.nih.gov/pubmed/33273526
http://dx.doi.org/10.1038/s41598-020-77980-5

Ejemplares similares