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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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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Ng, Tsz Kin, Tang, Wenyu, Cao, Yingjie, Chen, Shaowan, Zheng, Yuqian, Xiao, Xiaoqiang, Chen, Haoyu
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2019
Ämnen:
Länkar: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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