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