Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype

PURPOSE: Recessive mutations in the human IQCB1/NPHP5 gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA). Nphp5-knockout mice develop LCA without nephronophthisis. Mutant rods rapidly degenerate while mutant cones...

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Detalles Bibliográficos
Autores principales: Hanke-Gogokhia, Christin, Chiodo, Vince A., Hauswirth, William W., Frederick, Jeanne M., Baehr, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334983/
https://www.ncbi.nlm.nih.gov/pubmed/30713422

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