Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Leber congenital amaurosis (LCA), a severe autosomal recessive childhood blindness, is caused by mutations in at least 15 genes. The most common molecular form is a ciliopathy due to NPHP6 (CEP290) mutations and subjects have profound loss of vision. A similarly severe phenotype occurs in the relate...

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Main Authors: Cideciyan, Artur V., Rachel, Rivka A., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Sumaroka, Alexander, Roman, Alejandro J., Stone, Edwin M., Jacobson, Samuel G., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049361/
https://ncbi.nlm.nih.gov/pubmed/21245082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr022
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