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Modern Rheumatology Volume 20, 2010 - Issue 2
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Case Report

A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan

Koichi OshimaLaboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, JapanCorrespondence[email protected]
,
Kazuko YamazakiDepartment of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan
,
Yoichi NakajimaDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan
,
Akari KobayashiDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan
,
Tomochika KatoDepartment of Pediatrics, Toyokawa City Hospital, Toyokawa, Japan
,
Osamu OharaLaboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN, Yokohama Institute, Yokohama, Japan;Department of Human Genome Technology, Kazusa DNA Research Institute, Kisarazu, Japan
&
Kazunaga AgematsuDepartment of Infection and Host Defense, Shinshu University Graduate School of Medicine, Shinshu University School of Medicine, Matsumoto, Japan
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Pages 193-195 | Received 18 Aug 2009, Accepted 23 Oct 2009, Published online: 02 Jan 2014

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Tadashi Nakamura, Kiyoshi Migita, Yukio Ando, Hirokazu Takaoka, Hitoshi Suzushima & Naoki Shiraishi. (2014) Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I. Modern Rheumatology 24:2, pages 349-352.
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Articles from other publishers (3)

Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima & Yoshiki Sekijima. (2017) One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study. Rheumatology International 38:1, pages 105-110.
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Sumito Kawamura, Kazunaga Agematsu, Daisuke Kawamura, Goroh Kawamura, Koji Suzuki & Michio Minami. (2015) A Case Report of Familial Mediterranean Fever Diagnosed Following the Total Knee Arthroplasty. HSS Journal ? 11:3, pages 278-280.
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Dai Kishida, Akinori Nakamura, Masahide Yazaki, Ayako Tsuchiya-Suzuki, Masayuki Matsuda & Shu-ichi Ikeda. (2014) Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Research & Therapy 16:5.
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