New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome

被引：0
作者：
Kazuki Kuniyoshi
Takaaki Hayashi
Hiroyuki Sakuramoto
Hiroshi Mishima
Hiroshi Tsuneoka
Kazushige Tsunoda
Takeshi Iwata
Yoshikazu Shimomura
机构：
[1] Kinki University Faculty of Medicine,Department of Ophthalmology
[2] The Jikei University School of Medicine,Department of Ophthalmology
[3] National Hospital Organization Tokyo Medical Center,Laboratory of Visual Physiology, National Institute of Sensory Organs
[4] National Hospital Organization Tokyo Medical Center,Division of Molecular and Cellular Biology, National Institute of Sensory Organs
来源：
Japanese Journal of Ophthalmology | 2016年 / 60卷
关键词：
Enhanced S-cone syndrome; Electroretinogram; Goldmann-Favre syndrome; Optical coherence tomography;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：476 / 485
页数：9
相关论文
共 214 条
[61]  
Genead MA(undefined)undefined undefined undefined undefined-undefined
[62]  
Fishman GA(undefined)undefined undefined undefined undefined-undefined
[63]  
McAnany JJ(undefined)undefined undefined undefined undefined-undefined
[64]  
Rocha-Sousa A(undefined)undefined undefined undefined undefined-undefined
[65]  
Hayashi T(undefined)undefined undefined undefined undefined-undefined
[66]  
Gomes NL(undefined)undefined undefined undefined undefined-undefined
[67]  
Penas S(undefined)undefined undefined undefined undefined-undefined
[68]  
Brandão E(undefined)undefined undefined undefined undefined-undefined
[69]  
Rocha P(undefined)undefined undefined undefined undefined-undefined
[70]  
Cima I(undefined)undefined undefined undefined undefined-undefined
234567891011