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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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2016
Teme:
Articles
Online dostop: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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