A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS

被引：9
|
作者：
Zou, Wenjun [1 ]
Cheng, Libo [1 ]
Lu, Shui [1 ]
Wu, Zhifeng [1 ]
机构：
[1] Nanjing Med Univ, Dept Ophthalmol, Affiliated Wuxi 2 Peoples Hosp, Zhongshan Rd 68, Wuxi 214002, Jiangsu, Peoples R China
来源：
OPHTHALMIC GENETICS | 2020年 / 41卷 / 01期
关键词：
OPTIC ATROPHY;
D O I：
10.1080/13816810.2020.1719520
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：88 / 89
页数：2
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