Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA (CEP290) patients

PURPOSE: The rdAc cat has an intronic mutation in the centrosomal 290 kDa (CEP290) gene resulting in a frameshift and a premature stop codon (c.6960 + 9 T > G, p.Ile2321AlafsTer3) predicted to truncate the protein by 157 amino acids. CEP290 mutations in human patients cause a range or phenotypes...

Descripción completa

Detalles Bibliográficos
Autores principales: Minella, Andrea L., Narfström Wiechel, Kristina, Petersen‐Jones, Simon M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10107307/
https://www.ncbi.nlm.nih.gov/pubmed/36495011
http://dx.doi.org/10.1111/vop.13052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10107307/
https://www.ncbi.nlm.nih.gov/pubmed/36495011
http://dx.doi.org/10.1111/vop.13052

Ejemplares similares