Art

J-GLOBAL ID：201302219859084903   Reference number：13A0628531

CSF1R Mutations Identified in Three Families With Autosomal Dominantly Inherited Leukoencephalopathy

常染色体優性遺伝性白質脳症を伴う3家族において同定されたCSF1R変異

Author (18)： MITSUI Jun (Univ. of Tokyo, Tokyo, JPN) ,  MATSUKAWA Takashi (Univ. of Tokyo, Tokyo, JPN) ,  ISHIURA Hiroyuki (Univ. of Tokyo, Tokyo, JPN) ,  HIGASA Koichiro (Univ. of Tokyo, Chiba, JPN) ,  YOSHIMURA Jun (Univ. of Tokyo, Chiba, JPN) ,  SAITO Taro L. (Univ. of Tokyo, Chiba, JPN) ,  AHSAN Budrul (Univ. of Tokyo, Tokyo, JPN) ,  TAKAHASHI Yuji (Univ. of Tokyo, Tokyo, JPN) ,  GOTO Jun (Univ. of Tokyo, Tokyo, JPN) ,  IWATA Atsushi (Univ. of Tokyo, Tokyo, JPN) ,  NIIMI Yuki (Nagoya Daiichi Red Cross Hospital, Aichi, JPN) ,  RIKU Yuuichi (Nagoya Daiichi Red Cross Hospital, Aichi, JPN) ,  GOTO Yoji (Nagoya Daiichi Red Cross Hospital, Aichi, JPN) ,  MANO Kazuo (Nagoya Daiichi Red Cross Hospital, Aichi, JPN) ,  YOSHIDA Mari (Aichi Medical Univ., Aichi, JPN) ,  MORISHITA Shinichi (Univ. of Tokyo, Chiba, JPN) ,  TSUJI Shoji (Univ. of Tokyo, Tokyo, JPN) ,  TSUJI Shoji (National Inst. of Genetics, Shizuoka, JPN)
Material： American Journal of Medical Genetics. Part B. Neuropsychiatric Genetics  (Am J Med Genet Part B Neuropsychiatr Genet)
Volume： 159B  Issue： 8  Page： 951-957  Publication year： Dec. 2012 
JST Material Number： A1121A  ISSN： 1552-4841  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (5)： 常染色体優性遺伝 ,  白質脳症 ,  家族 ,  同定 ,  変異