Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation

Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes,...

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Pubblicato in:Hum Mol Genet
Autori principali: Downs, Louise M., Scott, Erin M., Cideciyan, Artur V., Iwabe, Simone, Dufour, Valerie, Gardiner, Kristin L., Genini, Sem, Marinho, Luis Felipe, Sumaroka, Alexander, Kosyk, Mychajlo S., Swider, Malgorzata, Aguirre, Geoffrey K., Jacobson, Samuel G., Beltran, William A., Aguirre, Gustavo D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291197/
https://ncbi.nlm.nih.gov/pubmed/27506978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw254
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