Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensiv...

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Bibliographic Details
Main Authors: Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4619688?pdf=render