Art

J-GLOBAL ID：201002290014220772   Reference number：10A1107872

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

無症候性血清クレアチンキナーゼ上昇日本人小児は4型先天性全身性リポジストロフィーと一致するPTRF-CAVIN突然変異を示す

Author (10)： DWIANINGSIH Ery Kus (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  TAKESHIMA Yasuhiro (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  ITOH Kyoko (Dep. of Pathology and Applied Neurobiology, Graduate School of Medical Sci., Kyoto Prefectural Univ. of Medicine ...) ,  YAMAUCHI Yumiko (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  AWANO Hiroyuki (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  MALUEKA Rusdy Ghazali (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  NISHIDA Atsushi (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  OTA Mitsunori (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  YAGI Mariko (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN) ,  MATSUO Masafumi (Dep. of Pediatrics, Graduate School of Medicine, Kobe Univ., Kobe, JPN)
Material： Molecular Genetics and Metabolism  (Mol Genet Metab)
Volume： 101  Issue： 2-3  Page： 233-237  Publication year： Oct. 2010 
JST Material Number： E0820A  ISSN： 1096-7192  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (7)： 症候 ,  血清 ,  クレアチンキナーゼ ,  日本人 ,  小児 ,  先天性全身性リポジストロフィー ,  突然変異