Article
Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
Ophthalmic genetics - 1 Aug 2018
Zhang Shanshan, Li Jie, Li Shujin, Yang Yeming, Yang Mu, Yang Zhenglin, Zhu Xianjun, Zhang Lin
Abstract excerpt
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 70 causative genes identified to date. However, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing mutations are yet to be identified. The purpose of this study is to identify the causative mutations of a Chinese RP family. METHODS: Targeted next-generation sequencing (NGS) for a...
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