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Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene
PURPOSE: The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. METHODS: Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were s...
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| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science
2014
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4072665/ https://ncbi.nlm.nih.gov/pubmed/24968223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100455 |
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