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J-GLOBAL ID：202002227732194121   Reference number：20A0524024

Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation

NPR2ミスセンス変異を伴うPHEX遺伝子変異により引き起こされた家族性低リン酸血症性くる病【JST・京大機械翻訳】

Author (5)： Zhao Yongting (Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, P.R. China) ,  Yang Fan (Department of Endocrinology, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, China) ,  Wang Lihong (Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, P.R. China) ,  Wang Lihong (Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China) ,  Che Hui (Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China)
Material： Journal of Pediatric Endocrinology and Metabolism  (J Pediatr Endocrinol Metab)
Volume： 33  Issue： 2  Page： 305-311  Publication year： 2020 
JST Material Number： W3758A  ISSN： 0334-018X  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Abstract/Point： Abstract: Background: Familia...

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Thesaurus term： *missense mutation ,  excretion ,  hereditary disease ,  edentulous mouth ,  *phosphorus ,  height(body) ,  *gene ,  *rickets ,  mutation ,  man
Semi thesaurus term： 変異解析 ,  骨痛 ,  成長遅延 ,  *低リン酸血症 ,  *PHEX遺伝子 , 【Automatic Indexing@JST】

Author keywords (3)： NPR2 ,  PHEX ,  X-linked hypophosphatemic rickets

JST classification (1)： Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (4)： ミスセンス変異 ,  PHEX遺伝子 ,  変異 ,  家族性低リン酸血症性くる病