Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis of IRD patients for better clinical management, treatment and counseling. In this study, we aimed to delineate and characterize the disease-c...

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Detalles Bibliográficos
Autores principales: Ng, Tsz Kin, Tang, Wenyu, Cao, Yingjie, Chen, Shaowan, Zheng, Yuqian, Xiao, Xiaoqiang, Chen, Haoyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449333/
https://www.ncbi.nlm.nih.gov/pubmed/30948794
http://dx.doi.org/10.1038/s41598-019-42105-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449333/
https://www.ncbi.nlm.nih.gov/pubmed/30948794
http://dx.doi.org/10.1038/s41598-019-42105-0

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