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J-GLOBAL ID：201602232041289722   Reference number：16A1134059

Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant

APLPとHRMアッセイによるADAMTS13遺伝子のc.1423C>T(p.P475S)多型の遺伝子型決定 突然変異体の北東アジア起源

Author (6)： Nakagawa Mayumi (Department of Pathobiological Science and Technology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan) ,  Matsusue Aya (Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan) ,  Umetsu Kazuo (Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990-9985, Japan) ,  Iino Morio (Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan) ,  Ishikawa Takaki (Department of Legal Medicine, Osaka City University Medical School, Osaka 545-8585, Japan) ,  Yuasa Isao (Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan)
Material： Legal Medicine  (Leg Med)
Volume： 21  Page： 1-4  Publication year： Jul. 2016 
JST Material Number： W1412A  ISSN： 1344-6223  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *Forensic Medicine ,...
Semi thesaurus term： genetic typing ,...

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Author keywords (5)： ADAMTS13 ,  Asian population ,  Geographical distribution ,  p.P475S mutation ,  Single nucleotide polymorphism (SNP)

JST classification (2)： Forensic medicine  (GA03000B) ,  Population genetics  (EC01040J)

Reference (27)：

• A. Pérez-Rodríguez, E. Lourés, Á. Rodríguez-Trillo, J. Costa-Pinto, A. García-Rivero, A. Batlle-López, et al., Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review, Thromb. Res. 134 (2014) 1171-1175.
• T. Miyata, K. Kokame, M. Matsumoto, Y. Fujimura, ADAMTS13 activity and genetic mutations in Japan, Hamostaseologie 33 (2013) 131-137.
• G.G. Levy, W.C. Nichols, E.C. Lian, T. Foroud, J.N. McClintick, B.M. McGee, et al., Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura, Nature 413 (2001) 488-494.
• X. Zheng, D. Chung, T.K. Takayama, E.M. Majerus, J.E. Sadler, K. Fujikawa, Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura, J. Biol. Chem. 276 (2001) 41059-41063.
• K. Soejima, N. Mimura, M. Hirashima, H. Maeda, T. Hamamoto, T. Nakagaki, et al., A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease?, J Biochem. 130 (2001) 475-480.

Terms in the title (9)： HRM ,  アッセイ ,  ADAMTS13 ,  遺伝子 ,  多型 ,  遺伝子型決定 ,  突然変異体 ,  北東アジア ,  起源