Art

J-GLOBAL ID：201402245979344370   Reference number：13A1968563

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

ヒトPTRF変異は全身性リポジストロフィーを伴う筋ジストロフィーに結果するカベオリン二次性欠損を引き起こす

Author (13)： HAYASHI Yukiko K. (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  MATSUDA Chie (National Inst. of Advanced Industrial Sci. and Technol., Ibaraki, JPN) ,  OGAWA Megumu (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  GOTO Kanako (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  TOMINAGA Kayo (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  MITSUHASHI Satomi (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  PARK Young-Eun (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  NONAKA Ikuya (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  HINO-FUKUYO Naomi (Tohoku Univ. School of Medicine, Miyagi, JPN) ,  HAGINOYA Kazuhiro (Tohoku Univ. School of Medicine, Miyagi, JPN) ,  HAGINOYA Kazuhiro (Takuto Rehabilitation Center for Children, Miyagi, JPN) ,  SUGANO Hisashi (Kochi Health Sci. Center, Kochi, JPN) ,  NISHINO Ichizo (National Center of Neurology and Psychiatry, Tokyo, JPN)
Material： Journal of Clinical Investigation  (JCI)
Volume： 119  Issue： 9  Page： 2623-2633  Publication year： Sep. 2009 
JST Material Number： B0520B  ISSN： 0021-9738  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (6)： ヒト ,  変異 ,  全身性リポジストロフィー ,  筋ジストロフィー ,  カベオリン ,  欠損