Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization

Pathogenic mutations in the RPE65 gene are associated with a spectrum of congenital blinding diseases in humans. We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 patients affected with Leber's congenital...

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Bibliografiske detaljer
Main Authors: Bereta, Grzegorz, Kiser, Philip D., Golczak, Marcin, Sun, Wenyu, Heon, Elise, Saperstein, David A., Palczewski, Krzysztof
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2610467/
https://ncbi.nlm.nih.gov/pubmed/18722466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi800905v
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