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

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:
inherited retinal dystrophy
whole exome sequencing
targeted panel sequencing
molecular diagnosis
Online Access:http://www.mdpi.com/2073-4425/9/7/360

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http://www.mdpi.com/2073-4425/9/7/360

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