Article
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
BMC medical genomics - 29 Mar 2021
Bai Zhouxian, Xie Yanchuan, Liu Lina, Shao Jingzhi, Liu Yuying, Kong Xiangdong
Abstract excerpt
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 the molecular diagnosis of retinopathy. METHODS: We describe a cohort of 211 families from central China with various forms of...
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