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J-GLOBAL ID：201902253709959117   Reference number：19A1751564

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

日本人常染色体優性多発性嚢胞腎疾患患者における次世代シーケンシングおよび多重ライゲーション依存性プローブ増幅による突然変異分析

Author (14)： Mochizuki Toshio (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Mochizuki Toshio (Clinical Research Division for Polycystic Kidney Disease, Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Teraoka Atsuko (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Akagawa Hiroyuki (Tokyo Women’s Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan) ,  Makabe Shiho (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Akihisa Taro (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Sato Masayo (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Kataoka Hiroshi (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Kataoka Hiroshi (Clinical Research Division for Polycystic Kidney Disease, Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Mitobe Michihiro (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Furukawa Toru (Tokyo Women’s Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan) ,  Furukawa Toru (Department of Histopathology, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Tsuchiya Ken (Department of Blood Purification, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan) ,  Nitta Kosaku (Department of Medicine, Kidney Center, Tokyo Women’s Medical University, Tokyo, Japan)
Material： Clinical and Experimental Nephrology (Web)
Volume： 23  Issue： 8  Page： 1022-1030  Publication year： 2019 
JST Material Number： U1582A  ISSN： 1342-1751  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (6)： Polycystic kidney disease ,  ADPKD ,  PKD1 ,  PKD2 ,  Next-generation sequencing ,  MLPA

JST classification (2)： Urogenital diseases  (GM03000L) ,  Molecular genetics in general  (EC02010J)

Terms in the title (10)： 日本人 ,  常染色体優性多発性嚢胞腎 ,  疾患患者 ,  次世代シーケンシング ,  多重 ,  ライゲーション ,  依存性 ,  プローブ ,  増幅 ,  突然変異分析