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Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

PURPOSE: Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration and six of the 22 known LCA disease genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA disease genes, the genetic basis of approximately 30% of LCA patients remains unknown. We sou...

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Detalles Bibliográficos
Autores principales:	Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965339/ https://www.ncbi.nlm.nih.gov/pubmed/26820066 http://dx.doi.org/10.1038/gim.2015.205

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