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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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| Veröffentlicht in: | Int J Ophthalmol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
International Journal of Ophthalmology Press
2016
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| Schlagworte: | |
| Online Zugang: | 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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