Open AccessExome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma
Author(s) -
Xiaoqiang Xiao,
Chukai Huang,
Yingjie Cao,
Shaowan Chen,
Yanxuan Xu,
Haoyu Chen,
ChiPui Pang,
Mingzhi Zhang
Publication year - 2019
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.19-27545
Subject(s) - exome sequencing , sanger sequencing , compound heterozygosity , biology , genetics , mutation , genotype , glaucoma , open angle glaucoma , gene , allele , neuroscience
Juvenile-onset open-angle glaucoma (JOAG), if left untreated, will lead to severe visual disability. The purpose of this study was to identify the disease-causing mutations in a Chinese JOAG family.
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