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A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis

BACKGROUND: Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to iden...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Bu, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695057/
https://www.ncbi.nlm.nih.gov/pubmed/29133760
http://dx.doi.org/10.4103/0366-6999.218007