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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Vydáno v:Hum Mol Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2016
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On-line přístup: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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