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J-GLOBAL ID：200902290873267500   Reference number：05A0677009

A Japanese Case of Familial Mediterranean Fever with Homozygosity for the Pyrin E148Q Mutation

Pyrin E148Q変異にホモ接合性を持つ家族性地中海熱の日本人の1例

Author (4)： SUZUKI Toshiro (Omachi City General Hospital, Omachi) ,  NAKAMURA Akinori (Shinshu Univ. School of Medicine, Matsumoto) ,  YAZAKI Masahide (Shinshu Univ. School of Medicine, Matsumoto) ,  IKEDA Shu-ichi (Shinshu Univ. School of Medicine, Matsumoto)
Material： Internal Medicine  (Intern Med)
Volume： 44  Issue： 7  Page： 765-766  Publication year： Jul. 2005 
JST Material Number： Z0157B  ISSN： 0918-2918  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： case report ,...
Semi thesaurus term： familial Mediterranean fever ,...

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JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (5)：

• 1) Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 345: 1748-1757, 2001.
• 2) Shinozaki K, Agematsu K, Yasui K, et al. Familial Mediterranean fever in 2 Japanese families. J Rheumatol 29: 1324-1325, 2002.
• 3) Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or sequence variant? Hum Mutat 15: 385-386, 2000.
• 4) Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 22: 339-340, 2003.
• 5) Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J M 94: 527-531, 2001.

Terms in the title (4)： 変異 ,  ホモ接合性 ,  家族性地中海熱 ,  日本人