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Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis

RPE65 is a membrane-associated retinoid isomerase involved in the visual cycle responsible for sustaining vision. Many mutations in the human RPE65 gene are associated with distinct forms of retinal degenerative diseases. The pathogenic mechanisms for most of these mutations remain poorly understood...

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Bibliografiske detaljer
Udgivet i:J Biochem
Main Authors: Li, Songhua, Hu, Jane, Jin, Robin J., Aiyar, Ashok, Jacobson, Samuel G., Bok, Dean, Jin, Minghao
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4516983/
https://ncbi.nlm.nih.gov/pubmed/25752820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jb/mvv028
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