Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS

Mutations in the photoreceptor tetraspanin gene peripherin-2/retinal degeneration slow (PRPH2/RDS) cause both rod- and cone-dominant diseases. While rod-dominant diseases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploinsufficiency caused by loss-of-function mutat...

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Autori principali: Conley, Shannon M., Stuck, Michael W., Burnett, Justin L., Chakraborty, Dibyendu, Azadi, Seifollah, Fliesler, Steven J., Naash, Muna I.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030767/
https://ncbi.nlm.nih.gov/pubmed/24463884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu014
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