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Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

AIM: To identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing. METHODS: A total of 371 known genes related to inherited eye diseases of the proband was selected and captured, followed by high-throughput sequencin...

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書目詳細資料
發表在:Int J Ophthalmol
Main Authors: Ma, Ming-Fu, Li, Lian-Bing, Pei, Yun-Qi, Cheng, Zhi
格式: Artigo
語言:Inglês
出版: International Journal of Ophthalmology Press 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886896/
https://ncbi.nlm.nih.gov/pubmed/27275416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.05.02
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