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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...
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| Pubblicato in: | Int J Ophthalmol |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
International Journal of Ophthalmology Press
2016
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| Soggetti: | |
| Accesso online: | 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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