Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

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作者： Yukito,Takeda ^[1] ; Daiki,Kubota ^[1] ; Noriko,Oishi ^[1] ; Kaori,Maruyama ^[1] ; Kiyoko,Gocho ^[1] ; Kunihiko,Yamaki ^[1] ; Tsutomu,Igarashi ^[2] ; Hiroshi,Takahashi ^[2] ; Shuhei,Kameya ^[1]

作者单位： Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital. ^[1] Department of Ophthalmology, Nippon Medical School. ^[2]

关键词 ERG GUCY2D adCRD cone rod dystrophy hotspot

主题词遗传关联研究(Genetic Association Studies);鸟苷酸环化酶(Guanylate Cyclase);人类(Humans);黄斑变性(Macular Degeneration);突变(Mutation);受体, 细胞表面(Receptors, Cell Surface)

DOI 10.1272/jnms.JNMS.2020_87-207

PMID 32009068

发布时间 2020-08-17

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Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

2020年87卷2期

92-99页

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Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

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Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

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Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

相似文献

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi

相关期刊

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