Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese

AIM: To make a comprehensive analysis of the potential pathogenic genes related with Leber congenital amaurosis (LCA) in Chinese. METHODS: LCA subjects and their families were retrospectively collected from 2013 to 2015. Firstly, whole-exome sequencing was performed in patients who had underwent gen...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Int J Ophthalmol
Prif Awduron: Wang, Shi-Yuan, Zhang, Qi, Zhang, Xiang, Zhao, Pei-Quan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Journal of Ophthalmology Press 2016
Pynciau:
Basic Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028658/
https://ncbi.nlm.nih.gov/pubmed/27672588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.09.04
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