Article
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy
3 Sept 2019
Abstract excerpt
Background/Objectives: To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory molecular tests.Materials and Methods: Complete ophthalmic examinations were performed for available affected family members. Whole exome sequencing, bioinformatics analysis, Sanger sequencing...
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