Article
Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
Current eye research - 1 Apr 2015
Li Aijun, Li Bingzhen, Wu Lemeng, Yang Liping, Chen Ningning, Ma Zhizhong
Abstract excerpt
PURPOSE: To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies. MATERIALS AND METHODS: A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high...
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