Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

Abstract Background Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large number of patients remain genetically undiagnosed. Targeted next-generation sequencing of the human genome is a suitable approach for th...

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Main Authors: Zhouxian Bai (Author), Yanchuan Xie (Author), Lina Liu (Author), Jingzhi Shao (Author), Yuying Liu (Author), Xiangdong Kong (Author)
Format: Book
Published: BMC, 2021-03-01T00:00:00Z.
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3rd Floor Main Library

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