斯塔加德特病
ABCA4型
遗传学
错义突变
移码突变
无义突变
等位基因
生物
先证者
基因突变
突变
复合杂合度
色素性视网膜炎
基因
表型
作者
Feng Jiang,Zhe Pan,Ke Xu,Lu Tian,Yue Xie,Xiaohui Zhang,Jieqiong Chen,Bing Dong,Yang Li
标识
DOI:10.1167/iovs.15-18190
摘要
The mutation spectrum of the ABCA4 gene in Chinese patients is quite different from that for Caucasian patients. The establishment of the mutation profile will facilitate ABCA4 screening and risk evaluation for Chinese patients with STGD1.
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