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

• Главные авторы: Zhouxian Bai (Автор), Yanchuan Xie (Автор), Lina Liu (Автор), Jingzhi Shao (Автор), Yuying Liu (Автор), Xiangdong Kong (Автор)
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• Опубликовано: BMC, 2021-03-01T00:00:00Z.
• Предметы: article
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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...