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The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa

Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death of photoreceptor cells. The P23H mutation, the most frequent single cause of RP in the USA, causes rhod...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Athanasiou, Dimitra, Aguila, Monica, Bellingham, James, Kanuga, Naheed, Adamson, Peter, Cheetham, Michael E
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5868081/
https://ncbi.nlm.nih.gov/pubmed/29036441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx370
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