Art

J-GLOBAL ID：201702246232152983   Reference number：17A0285031

Identification and Functional Analysis for Novel Gene Mutation Responsible for Autosomal Dominant Macular Dystrophy involved Dysfunction of ON-type Bipolar Cells

正常型双極細胞の機能不全を含む常染色体優性遺伝黄斑ジストロフィーの対応する新規遺伝子突然変異の同定と機能分析

Author (13)： KAWAMURA Yuichi (National Inst. of Sensory Organs, JPN) ,  KAWAMURA Yuichi (Juntendo Univ. Graduate School of Medicine) ,  FUJIMAKI Takuro (Juntendo Univ. Graduate School of Medicine) ,  YOSHITAKE Kazutoshi (National Inst. of Sensory Organs, JPN) ,  YOSHITAKE Kazutoshi (Japan Software Management Corporate) ,  TSUNODA Kazushige (National Inst. of Sensory Organs, JPN) ,  BABA Yukihiro (Univ. Tokyo) ,  SUGA Akiko (National Inst. of Sensory Organs, JPN) ,  KURIBAYASHI Hiroshi (Univ. Tokyo) ,  WATANABE Sumiko (Univ. Tokyo) ,  IKEO Kazuho (National Inst. of Genetics) ,  MURAKAMI Akira (Juntendo Univ. Graduate School of Medicine) ,  IWATA Takeshi (National Inst. of Sensory Organs, JPN)
Material： 日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)
Volume： 61st(Web)  Page： ROMBUNNO.Tue(3)-P-204 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *neuron ,...
Semi thesaurus term： Macular Degeneration ,...

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JST classification (4)： Anthropology  (EA01070K) ,  Genetic variation  (EC01030Y) ,  Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Eye diagnosis(= ophthalmic diagnosis)  (GP02000N)

Terms in the title (6)： 双極細胞 ,  機能不全 ,  常染色体優性遺伝 ,  黄斑ジストロフィー ,  同定 ,  機能分析