A novel homozygous in-frame deletion of GNAT1 gene cause golden discolouration of the fundus and reduced dark-adapted ERG similar to that of Oguchi disease in a Japanese family
A novel homozygous in-frame deletion of GNAT1 gene cause golden discolouration of the fundus and reduced dark-adapted ERG similar to that of Oguchi disease in a Japanese family
复制标题
GNAT1 基因的新型纯合框内缺失导致眼底呈金色变色并减少暗适应 ERG，类似于日本家庭中的大口病
DOI：
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Atsushi Mizota
中科院分区：
文献类型：
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作者：
Shuhei Kameya;Daiki Kubota;Kiyoko Gocho;Sachiko Kikuchi;Kunihiko Yamaki;Tsutomu Igarashi;Hiroshi Takahashi;Nobuo Ishida;Kazutoshi Yoshitake;Takeshi Iwata;Atsushi Mizota
