A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

Canine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breed...

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Detalles Bibliográficos
Autores principales: Hitti-Malin, Rebekkah J., Burmeister, Louise M., Lingaas, Frode, Kaukonen, Maria, Pettinen, Inka, Lohi, Hannes, Sargan, David, Mellersh, Cathryn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624581/
https://www.ncbi.nlm.nih.gov/pubmed/34828377
http://dx.doi.org/10.3390/genes12111771

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624581/
https://www.ncbi.nlm.nih.gov/pubmed/34828377
http://dx.doi.org/10.3390/genes12111771

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