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Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

26 Jun 2014

Abstract excerpt

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 screened by whole exome sequencing and then validated by Sanger sequencing. RESULTS: Eleven candidate variants in...

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PMID: 24968223
DOI: 10.1371/journal.pone.0100455

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