Art

J-GLOBAL ID：201702239024996054   Reference number：17A0519267

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1

多発性内分泌腫瘍症1型の日本人青少年における新規MEN1変異

Author (2)： Itoh Masatsune (Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan) ,  Saikawa Yutaka (Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 26  Issue： 1  Page： 25-28(J-STAGE)  Publication year： 2017 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *genetic variation ,...

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Author keywords (3)： multiple endocrine neoplasia type 1 (MEN1) ,  adolescent ,  missense mutation

JST classification (2)： Tumors(=neoplasms)of endocrine system  (GL04000P) ,  Clinical oncology in general  (GE03010Y)

Reference (4)：

• 1. Thakker, RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol 2014;386: 2-15.
• 2. Sakurai, A, Yamazaki, M, Suzuki, S, Fukushima, T, Imai, T, Kikumori, T, et al. Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of the database of the MEN Consortium of Japan. Endocr J 2012;59: 859-66.
• 3. Bassett, JH, Forbes, SA, Pannett, AA, Lloyd, SE, Christie, PT, Wooding, C, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998;62: 232-44.
• 4. Sakurai, A, Suzuki, S, Kosugi, S, Okamoto, T, Uchino, S, Miya, A, et al. MEN Consortium of JapanMultiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database. Clin Endocrinol (Oxf) 2012;76: 533-9.

Terms in the title (5)： 多発性内分泌腫瘍症1型 ,  日本人 ,  青少年 ,  MEN1 ,  変異