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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Detalles Bibliográficos
Autores principales: Wang, Likun, Zhang, Jinlu, Chen, Ningning, Wang, Lei, Zhang, Fengsheng, Ma, Zhizhong, Li, Genlin, Yang, Liping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071067/
https://www.ncbi.nlm.nih.gov/pubmed/30029497
http://dx.doi.org/10.3390/genes9070360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071067/
https://www.ncbi.nlm.nih.gov/pubmed/30029497
http://dx.doi.org/10.3390/genes9070360

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