A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Author:

Mo Guoyan,Ding Qin,Chen Zhongshan,Li Yunbo,Yan Ming,Bu Lijing,Song Yanping,Yin Guohua

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference53 articles.

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2. A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina;CP Hamel;J Neurosci Res,1993

3. Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium;M Jin;Cell,2005

4. RPE65 is the isomerohydrolase in the retinoid visual cycle;G Moiseyev;Proc Natl Acad Sci U S A,2005

5. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle;TM Redmond;Proc Natl Acad Sci U S A,2005

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