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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Detalles Bibliográficos
Autores principales: Yang, Liping, Cui, Hui, Yin, Xiaobei, Dou, Hongliang, Zhao, Lin, Chen, Ningning, Zhang, Jinlu, Zhang, Huirong, Li, Genlin, Ma, Zhizhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619688/
https://www.ncbi.nlm.nih.gov/pubmed/26496393
http://dx.doi.org/10.1371/journal.pone.0140684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619688/
https://www.ncbi.nlm.nih.gov/pubmed/26496393
http://dx.doi.org/10.1371/journal.pone.0140684

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