Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study

Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous diseases involving more than 280 genes and no less than 20 different clinical phenotypes. In this study, our aims were to identify the disease-causing gene variants of 319 Chinese patients with IRD, and comp...

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Bibliographic Details
Main Authors: Likun Wang, Jinlu Zhang, Ningning Chen, Lei Wang, Fengsheng Zhang, Zhizhong Ma, Genlin Li, Liping Yang
Format: Article
Language:English
Published: MDPI AG 2018-07-01
Series:Genes
Subjects:
Online Access:http://www.mdpi.com/2073-4425/9/7/360

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