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J-GLOBAL ID：201302294844387510   Reference number：13A0981769

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

日本人結節性硬化症患者におけるTSC1とTSC2の変異解析により,これまでの報告よりもTSC1患者の高い発生率が明らかになった

Author (9)： NIIDA Yo (Kanazawa Univ., Ishikawa, JPN) ,  NIIDA Yo (Kanazawa Medical Univ. Hospital, Ishikawa, JPN) ,  WAKISAKA Akiko (Iou Hospital, Ishikawa, JPN) ,  TSUJI Takanori (Iou Hospital, Ishikawa, JPN) ,  YAMADA Hiroshi (Oita Univ. Fac. Medicine, Oita, JPN) ,  KURODA Mondo (Kanazawa Univ. Graduate School of Medical Sci., Ishikawa, JPN) ,  MITANI Yusuke (Kanazawa Univ. Graduate School of Medical Sci., Ishikawa, JPN) ,  OKUMURA Akiko (Kanazawa Univ. Graduate School of Medical Sci., Ishikawa, JPN) ,  YOKOI Ayano (Kanazawa Univ. Graduate School of Medical Sci., Ishikawa, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 58  Issue： 4  Page： 216-225  Publication year： Apr. 2013 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human (sociology) ,...
Semi thesaurus term： genetic variation ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Immunologic diseases,allergic diseases in general.  (GD04010C) ,  Molecular genetics in general  (EC02010J)

Reference (48)：

• GOMEZ, M. R. Tuberous Sclerosis Complex. 1999
• BOURNEVILLE, D. M. Sclerose tubereuse des circonvolutions cerebrales : idiotie et epilepsie hemiplegique. Arch. Neurol. 1880, 1, 81-91
• ROACH, E. S. Diagnosis of Tuberous sclerosis complex. J. Child. Neurol. 2004, 19, 643-649
• KWIATKOWSKI, D. J. Tuberous sclerosis. Arch. Dermatol. 1994, 130, 348-354
• OSBORNE, J. P. Epidemiology of tuberous sclerosis. Ann. N. Y. Acad. Sci. 1991, 615, 125-127

Terms in the title (8)： 日本人 ,  結節性硬化症 ,  患者 ,  TSC1 ,  TSC2 ,  変異解析 ,  報告 ,  発生率