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

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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Bibliographic Details
Main Authors: Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Medical Genomics
Subjects:
Hereditary retinopathy
Novel mutations
Targeted sequencing
Genetic testing
Online Access:https://doi.org/10.1186/s12920-021-00935-w

Internet

https://doi.org/10.1186/s12920-021-00935-w

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