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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Publicat a:Mol Vis
Autors principals: Hanke-Gogokhia, Christin, Chiodo, Vince A., Hauswirth, William W., Frederick, Jeanne M., Baehr, Wolfgang
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6334983/
https://ncbi.nlm.nih.gov/pubmed/30713422
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