Article

New Compound Heterozygous CYP4V2 Mutations in Bietti Crystalline Corneoretinal Dystrophy

2020-06-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of <italic>CYP4V2</italic>.Here we identified new <italic>CYP4V2</italic>compound heterozygous mutations in BCD.<bold>Methods:</bold>381 pathogenic genes related to retinal diseases were screened by targeted sequence capture array techniq...

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Literature Corpus work: 1935d9ab-9621-5b01-a201-1922a5ff3c73
DOI: 10.21203/rs.3.rs-32652/v1

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