Art

J-GLOBAL ID：201702237201781808   Reference number：17A0537340

Portal hypertension caused by PKHD1 mutations in children: 4 cases report

PKHD1突然変異による小児門脈圧亢進症4例の報告【JST・京大機械翻訳】

Author (8)： Yan Yanyan (Department of Neonatology,Second Affiliated Hospital,Yuying Children’s Hospital of Wenzhou Medical University) ,  Gong Jingyu (Department of Pediatrics,Jinshan Hospital of Fudan University) ,  Shi Yingyan (Department of Radiology,Children’s Hospital of Fudan University) ,  Lu Yi (Department of Infectious Disease,Children’s Liver Center,Children’s Hospital of Fudan University) ,  Zhang Meihong (Department of Pediatrics,Jinshan Hospital of Fudan University) ,  Xie Xinbao (Department of Infectious Disease,Children’s Liver Center,Children’s Hospital of Fudan University) ,  Wang Jianshe (Department of Infectious Disease,Children’s Liver Center,Children’s Hospital of Fudan University) ,  Lin Jin (Department of Neonatology,Second Affiliated Hospital,Yuying Children’s Hospital of Wenzhou Medical University)
Material： Zhongguo Xun Zheng Erke Zazhi
Volume： 11  Issue： 6  Page： 455-459  Publication year： 2016 
JST Material Number： C3093A  ISSN： 1673-5501  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective Using the next gener...

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Thesaurus term： pathogenesis ,  *portal hypertension ,  frameshift mutation ,  transaminase ,  woman ,  codon ,  *variation(biology) ,  hospital ,  heredity ,  *mutation ,  patient ,  man ,  aliphatic amine ,  aliphatic carboxylic acid ,  branched-chain amino acid ,  amino acid ,  primary amine
Semi thesaurus term： 遺伝子配列 , 【Automatic Indexing@JST】

Author keywords (5)： Portal hypertension ,  Polycystic kidney ,  Autosomal recessive ,  Gene ,  Children

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Digestive system diseases  (GH03000W)

Substance index (2)： Leucine ,  Alanine

Terms in the title (4)： 突然変異 ,  小児 ,  門脈圧亢進症 ,  報告