Art

J-GLOBAL ID：201702283648839647   Reference number：17A0538478

Clinical and TUBB4A mutation analysis of hypomyelination with atrophy of the basal ganglia and cerebellum in a family

基底核小脳萎縮を伴う髄鞘形成低下1家系臨床とTUBB4A遺伝子変異解析【JST・京大機械翻訳】

Author (9)： Deng Xiaolong (Department of Pediatrics,Peking University First Hospital) ,  Yan Huifang (Department of Pediatrics,Peking University First Hospital) ,  Xiao Jiangxi (Department of Medical Imaging,Peking University First Hospital) ,  Wu Ye (Department of Pediatrics,Peking University First Hospital) ,  Gu Qiang (Department of Pediatrics,Peking University First Hospital) ,  Ji Haoran (Department of Pediatrics,Peking University First Hospital) ,  Li Dongxiao (Department of Pediatrics,Peking University First Hospital) ,  Jiang Yuwu (Department of Pediatrics,Peking University First Hospital) ,  Wang Jingmin (Department of Pediatrics,Peking University First Hospital)
Material： Zhonghua Shiyong Erke Linchuang Zazhi
Volume： 31  Issue： 24  Page： 1867-1870  Publication year： 2016 
JST Material Number： C2794A  ISSN： 2095-428X  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective To analyze the clini...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A0538478&from=J-GLOBAL&jstjournalNo=C2794A") }}

Thesaurus term： wild type ,  white matter ,  genetic counseling ,  *variation(biology) ,  *pedigree ,  phenotype ,  medical record ,  mutation ,  pathogenicity ,  *heredity ,  patient ,  genetics ,  screening(inspection)
Semi thesaurus term： 分子遺伝学 ,  頭部MRI , 【Automatic Indexing@JST】

Author keywords (3)： Hypomyelination with atrophy of the basal ganglia and cerebellum ,  Mutation ,  TUBB4A gene

JST classification (2)： Diagnostics of infectious diseases,parasitic diseases.  (GD01020S) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (6)： 基底核 ,  小脳萎縮 ,  髄鞘形成 ,  家系 ,  臨床 ,  遺伝子変異解析