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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Ng, Tsz Kin, Tang, Wenyu, Cao, Yingjie, Chen, Shaowan, Zheng, Yuqian, Xiao, Xiaoqiang, Chen, Haoyu
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6449333/
https://ncbi.nlm.nih.gov/pubmed/30948794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-42105-0
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