A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bereta, Grzegorz, Kiser, Philip D., Golczak, Marcin, Sun, Wenyu, Heon, Elise, Saperstein, David A., Palczewski, Krzysztof
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!