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

2021-01-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large part of patients remain undiagnosed genetically. Targeted next generation sequencing of the human genome is a suitable approach for retinopathy molecular diagnosis.<bold>Methods:</bold> We described a cohort of 211 famil...

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Literature Corpus work: deac7b83-255d-5799-a1c7-3a75c33b4207
DOI: 10.21203/rs.3.rs-20958/v3

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