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J-GLOBAL ID：201202203674185648   Reference number：12A1254632

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis

日本人の強皮骨膜症患者におけるプロスタグランジントランスポータ遺伝子SLCO2A1における突然変異の同定とその表現型-遺伝型相関

Author (20)： SASAKI Takashi (Center for Integrated Medical Res., Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  SASAKI Takashi (Dep. of Dermatology, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  NIIZEKI Hironori (Dep. of Dermatology, National Center for Child Health and Dev., Setagaya-ku, Tokyo, JPN) ,  SHIMIZU Atsushi (Dep. of Molecular Biology, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  SHIOHAMA Aiko (Lab. of Gene Medicine, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  HIRAKIYAMA Asami (Dep. of Dermatology, National Center for Child Health and Dev., Setagaya-ku, Tokyo, JPN) ,  HIRAKIYAMA Asami (Dep. of Lab. Medicine, National Center for Child Health and Dev., Setagaya-ku, Tokyo, JPN) ,  OKUYAMA Torayuki (Dep. of Lab. Medicine, National Center for Child Health and Dev., Setagaya-ku, Tokyo, JPN) ,  SEKI Atsuhito (Dep. of Orthopedics, National Center for Child Health and Dev., Setagaya-ku, Tokyo, JPN) ,  KABASHIMA Kenji (Dep. of Dermatology, Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  OTSUKA Atsushi (Dep. of Dermatology, Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  ISHIKO Akira (First Dep. of Dermatology, School of Medicine, Toho Univ., Ota-ku, Tokyo, JPN) ,  TANESE Keiji (Div. of Dermatology, Kawasaki Municipal Hospital, Kawasaki, Kanagawa, JPN) ,  MIYAKAWA Shun-ichi (Div. of Dermatology, Kawasaki Municipal Hospital, Kawasaki, Kanagawa, JPN) ,  SAKABE Jun-ichi (Dep. of Dermatology, Hamamatsu Univ. School of Medicine, Hamamatsu, Shizuoka, JPN) ,  KUWAHARA Masamitsu (Div. of Plastic Surgery, Nara Medical Univ., Kashihara, Nara, JPN) ,  AMAGAI Masayuki (Dep. of Dermatology, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  OKANO Hideyuki (Dep. of Physiology, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  SUEMATSU Makoto (Dep. of Biochemistry, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN) ,  KUDOH Jun (Lab. of Gene Medicine, Keio Univ. School of Medicine, Shinjuku-ku, Tokyo, JPN)
Material： Journal of Dermatological Science  (J Dermatol Sci)
Volume： 68  Issue： 1  Page： 36-44  Publication year： Oct. 2012 
JST Material Number： W1280A  ISSN： 0923-1811  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *HPGD遺伝子 ,...

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JST classification (3)： Basic dermatology  (GF01020Y) ,  Basic medicine on musculoskeletal system  (GG01020B) ,  Genetic variation  (EC01030Y)

Terms in the title (10)： 日本人 ,  強皮骨膜症 ,  患者 ,  遺伝子 ,  SLCO2A1 ,  突然変異 ,  同定 ,  表現型 ,  遺伝型 ,  相関