Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Charng, Jason, Cideciyan, Artur V., Jacobson, Samuel G., Sumaroka, Alexander, Schwartz, Sharon B., Swider, Malgorzata, Roman, Alejandro J., Sheplock, Rebecca, Anand, Manisha, Peden, Marc C., Khanna, Hemant, Heon, Elise, Wright, Alan F., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6078602/
https://ncbi.nlm.nih.gov/pubmed/27798110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw361
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