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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Publié dans:Hum Mol Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
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Articles
Accès en ligne: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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