RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause severe retinal ciliopathy, X-linked retinitis pigmentosa. Although two major alternatively spliced isoforms, RPGR(ex1-19) and RPGR(ORF15), are expressed, the relative importance of these isoforms in disease pathogenesis is unclear. Here...

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Publicado en:Hum Mol Genet
Main Authors: Moreno-Leon, Laura, West, Emma L, O’Hara-Wright, Michelle, Li, Linjing, Nair, Rohini, He, Jie, Anand, Manisha, Sahu, Bhubanananda, Chavali, Venkat Ramana Murthy, Smith, Alexander J, Ali, Robin R, Jacobson, Samuel G, Cideciyan, Artur V, Khanna, Hemant
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
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General Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7823108/
https://ncbi.nlm.nih.gov/pubmed/33355362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa269
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