Art
J-GLOBAL ID：201602271430706813   Reference number：16A0983181

Prader-Willi syndrome with NPHP1 gene duplication mutation in children: A case report and literature review

児童PRADER-WILLI症候群を合併したNPHP1遺伝子の重複1例を文献の復習変異【JST・京大機械翻訳】
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Author (3)：
Wang Ruifeng

About Wang Ruifeng

(Department of Endocrinology,Nanjing General Hospital of Nanjing Military Command)

About Department of Endocrinology,Nanjing General Hospital of Nanjing Military Command

, 
Xu Yixin

About Xu Yixin

(南京軍区南京総医院内分泌科)

About 南京軍区南京総医院内分泌科

, 
Du Hong

About Du Hong

(南京軍区南京総医院内分泌科)

About 南京軍区南京総医院内分泌科


Material：
Zhongguo Tangniaobing Zazhi

About Zhongguo Tangniaobing Zazhi


Volume： 24  Issue： 3  Page： 271-274  Publication year： 2016 
JST Material Number： C3088A  ISSN： 1006-6187  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)
Abstract/Point：
Abstract/Point
Japanese summary of the article(about several hundred characters).
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Prader-Willi syndrome(PWS) is ...
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Thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
early diagnosis

About early diagnosis

, 
medical record

About medical record

, 
*school children

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, 
therapy

About therapy

, 
human(primates)

About human(primates)

, 
patient

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, 
*gene

About gene

, 
physician

About physician

, 
*heredity

About heredity

, 
genotype

About genotype

, 
*variation(biology)

About variation(biology)


Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
ゲノム配列

About ゲノム配列

, 
発生率

About 発生率

, 【Automatic Indexing@JST】
Author keywords (3)：
Prader-Willi syndrome

About Prader-Willi syndrome

, 
Diabetes mellitus

About Diabetes mellitus

, 
NPHP1 gene

About NPHP1 gene

JST classification (1)：
JST classification
Category name(code) classified by JST.
Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

Terms in the title (7)：
Terms in the title
Keywords automatically extracted from the title.
児童

About 児童

, 
Prader-Willi症候群

About Prader-Willi症候群

, 
合併

About 合併

, 
遺伝子

About 遺伝子

, 
文献

About 文献

, 
復習

About 復習

, 
変異

About 変異


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