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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

1 Jan 2019

Abstract excerpt

Background: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. Methods: Medical...

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PMID: 31144483
DOI: 10.3346/jkms.2019.34.e161

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