Investigative ophthalmology & visual science۲۰۲۵۹ استنادنمایه شده در PubMed
Yingwei Wang, Pangfeng Wang, Zhen Yi, Jiamin Ouyang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, James Fielding Hejtmancik, Wenmin Sun, Qingjiong Zhang
چکیده
The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort. For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by…
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DOI: 10.1167/iovs.66.1.65