Art

J-GLOBAL ID：201402215440461784   Reference number：14A0100697

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause nagashima-type palmoplantar keratosis

長島型掌蹠角化症を引き起こすセリンプロテアーゼインヒビタースーパーファミリーのメンバーをコード化するSERPINB7の変異

Author (28)： KUBO Akiharu (Keio Univ. School of Medicine, Tokyo, JPN) ,  SHIOHAMA Aiko (Keio Univ. School of Medicine, Tokyo, JPN) ,  SASAKI Takashi (Keio Univ. School of Medicine, Tokyo, JPN) ,  KAWASAKI Hiroshi (Keio Univ. School of Medicine, Tokyo, JPN) ,  ATSUGI Toru (Keio Univ. School of Medicine, Tokyo, JPN) ,  SATO Showbu (Keio Univ. School of Medicine, Tokyo, JPN) ,  TAISUKE Ito (Keio Univ. School of Medicine, Tokyo, JPN) ,  AMAGAI Masayuki (Keio Univ. School of Medicine, Tokyo, JPN) ,  NAKABAYASHI Kazuhiko (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  HATA Kenichiro (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  ATSUGI Toru (KOSE Corp., Tokyo, JPN) ,  SHIMIZU Atsushi (Keio Univ. School of Medicine, Tokyo, JPN) ,  MIKAMI Shuji (Keio Univ. Hospital, Tokyo, JPN) ,  TANIZAKI Hideaki (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  KABASHIMA Kenji (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  UCHIYAMA Masaki (Tokyo Medical Univ., Tokyo, JPN) ,  MAEDA Tatsuo (Tokyo Medical Univ., Tokyo, JPN) ,  MITSUHASHI Yoshihiko (Tokyo Medical Univ., Tokyo, JPN) ,  SAKABE Jun-Ichi (Hamamatsu Univ. School of Medicine, Hamamatsu, JPN) ,  TOKURA Yoshiki (Hamamatsu Univ. School of Medicine, Hamamatsu, JPN) ,  HEIKE Toshio (Kyoto Univ. Graduate School of Medicine, Kyoto, JPN) ,  OKUYAMA Torayuki (National Center for Child Health and Dev., Tokyo, JPN) ,  KOSAKI Rika (National Center for Child Health and Dev., Tokyo, JPN) ,  KOSAKI Kenjiro (Keio Univ. School of Medicine, Tokyo, JPN) ,  KUDOH Jun (Keio Univ. School of Medicine, Tokyo, JPN) ,  UMEZAWA Akihiro (National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  ISHIKO Akira (Toho Univ., Tokyo, JPN) ,  NIIZEKI Hironori (National Center for Child Health and Dev., Tokyo, JPN)
Material： American Journal of Human Genetics  (AJHG)
Volume： 93  Issue： 5  Page： 945-956  Publication year： 2013 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (3)： 長島型掌蹠角化症 ,  メンバー ,  変異