Art

J-GLOBAL ID：201202242596240764   Reference number：12A1360833

MBTPS2 Mutation Causes BRESEK/BRESHECK Syndrome

MBTPS2突然変異はBRESEK/BRESHECK症候群を引き起こす

Author (11)： NAIKI Misako (Aichi Human Serv. Center, Aichi, JPN) ,  NAIKI Misako (Nagoya Univ. Graduate School of Medicine, Aichi, JPN) ,  MIZUNO Seiji (Aichi Human Serv. Center, Aichi, JPN) ,  YAMADA Kenichiro (Aichi Human Serv. Center, Aichi, JPN) ,  YAMADA Yasukazu (Aichi Human Serv. Center, Aichi, JPN) ,  KIMURA Reiko (Aichi Human Serv. Center, Aichi, JPN) ,  OSHIRO Makoto (Japanese Red Cross Nagoya Daiichi Hospital, Aichi, JPN) ,  OKAMOTO Nobuhiko (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Osaka, JPN) ,  MAKITA Yoshio (Asahikawa Medical Univ., Hokkaido, JPN) ,  SEISHIMA Mariko (Gifu Univ. Graduate School of Medicine, Gifu, JPN) ,  WAKAMATSU Nobuaki (Aichi Human Serv. Center, Aichi, JPN)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 158  Issue： 1  Page： 97-102  Publication year： Jan. 2012 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (2)： 突然変異 ,  症候群