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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4965339/
https://ncbi.nlm.nih.gov/pubmed/26820066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.205
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