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

The retinal pigment epithelium-specific 65 kDa protein is an isomerase encoded by the RPE65 gene (MIM 180069) that is responsible for an essential enzymatic step required for the function of the visual cycle. Mutations in the RPE65 gene cause not only subtype II of Leber congenital amaurosis (LCA) b...

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Detalles Bibliográficos
Autores principales: Mo, Guoyan, Ding, Qin, Chen, Zhongshan, Li, Yunbo, Yan, Ming, Bu, Lijing, Song, Yanping, Yin, Guohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226570/
https://www.ncbi.nlm.nih.gov/pubmed/25383945
http://dx.doi.org/10.1371/journal.pone.0112400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226570/
https://www.ncbi.nlm.nih.gov/pubmed/25383945
http://dx.doi.org/10.1371/journal.pone.0112400

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