Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD.Methods: We designed a retrospective study wherein a total of 1,334 patients diagnosed with IRD were included as a study cohort, namely 1,278...

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Bibliographic Details
Main Authors: Wei Li, Xiao-Sen Jiang, Dong-Ming Han, Jia-Yu Gao, Zheng-Tao Yang, Li Jiang, Qian Zhang, Sheng-Hai Zhang, Ya Gao, Ji-Hong Wu, Jian-Kang Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
USH2A gene
rp
USH
founder mutations
genetic profile
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.900548/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.900548/full

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