Art

J-GLOBAL ID：201702274638771408   Reference number：17A0101298

Establishment and application of gene mutation method based on autosomal dominant polycystic kidney disease

改良染色法を用いて,常染色体優性遺伝子多型遺伝子突然変異を検出した。【JST・京大機械翻訳】

Author (7)： Zhang Mingchao (Institute of Life Science, Jiangsu University, National Clinical Research Center of Kidney Diseases) ,  Liu Shuaimei (PIA Research of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Region) ,  He Qunpeng (National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine) ,  Zhu Peiran (Institute of Life Science, Jiangsu University) ,  Li Weiwei (PIA Research of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Region) ,  Wu Qiuyue (PIA Research of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Region) ,  Xia Xinyi (Institute of Life Science, Jiangsu University)
Material： Shenzang Bing Yutouxi Shen Yizhi Zazhi
Volume： 25  Issue： 4  Page： 347-351  Publication year： 2016 
JST Material Number： C2982A  ISSN： 1006-298X  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective: Autosomal dominant ...

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Thesaurus term： Phenotype ,  human ,  *Mutation ,  pathogenicity ,  *Heredity ,  amino acid ,  database ,  screening (inspection) ,  intron ,  nonsense mutation ,  pedigree ,  Genotype ,  *autosomal dominant inheritance ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  常染色体優性多発性嚢胞腎 , 【Automatic Indexing@JST】

Author keywords (4)： autosomal dominant polycystic kidney disease ,  PKD1 ,  PKD2 ,  next generation sequencing technology

JST classification (5)： Kidney  (EJ09030X) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Drug therapy(=pharmacotherapy)for urogenital diseases  (GM05020V) ,  Basic medicine on urogenital system  (GM01020T)

Terms in the title (4)： 染色 ,  常染色体 ,  優性遺伝子 ,  多型