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Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not been systemically evaluated in East Asians. Therefore, we performed comprehensive detection of varia...

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Detalles Bibliográficos
Autores principales:	Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Guo, Xiangming, Jiao, Xiaodong, Zhang, Qingjiong, Hejtmancik, J. Fielding
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094346/ https://www.ncbi.nlm.nih.gov/pubmed/21602930 http://dx.doi.org/10.1371/journal.pone.0019458

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