Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

BACKGROUND: Mutations in the CEP290 (cilia-centrosomal protein 290 kDa) gene in Leber congenital amaurosis (LCA) cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl(−...

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Bibliografiska uppgifter
Huvudupphovsmän: Boye, Shannon E., Huang, Wei-Chieh, Roman, Alejandro J., Sumaroka, Alexander, Boye, Sanford L., Ryals, Renee C., Olivares, Melani B., Ruan, Qing, Tucker, Budd A., Stone, Edwin M., Swaroop, Anand, Cideciyan, Artur V., Hauswirth, William W., Jacobson, Samuel G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2014
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3966841/
https://ncbi.nlm.nih.gov/pubmed/24671090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0092928
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