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Modern Rheumatology Volume 22, 2012 - Issue 1
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Original Article

Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever

Yumi ToneDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan
,
Tomoko TomaDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan
,
Akiko TogaDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan
,
Yasuhisa SakakibaraDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan
,
Taizo WadaDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, Japan
,
Masahiro YabeDepartment of General Internal Medicine, Niigata City General Hospital, Niigata, Japan
,
Hiromitu KusafukaDepartment of General Internal Medicine, Nagoya Memorial Hospital, Nagoya, Japan
&
Akihiro YachieDepartment of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa 920-8641, JapanCorrespondence[email protected]
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Pages 45-51 | Received 04 Apr 2011, Accepted 15 Apr 2011, Published online: 02 Jan 2014

Citations (7)

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Read on this site (2)

Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Y-h Taguchi & Yoshiki Murakami. (2017) Microarray analysis of circulating microRNAs in familial Mediterranean fever. Modern Rheumatology 27:6, pages 1040-1046.
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Deniz Aslan. (2014) Leukopenia in Familial Mediterranean Fever: Case Series and Literature Review with Special Emphasis on Pathogenesis. Pediatric Hematology and Oncology 31:2, pages 120-128.
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Articles from other publishers (5)

Kengo Miyashita, Yusuke Matsuda, Michiko Okajima, Tomoko Toma, Akihiro Yachie & Taizo Wada. (2021) Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV . Pediatrics International 64:1.
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Hacer Orsdemir Hortu, Emin Karaca, Betul Sozeri, Nesrin Gulez, Balahan Makay, Cumhur Gunduz, Tahir Atik, Ismihan Merve Tekin, Sevket Erbil Unsal & Ozgur Cogulu. (2018) Evaluation of the effects of miRNAs in familial Mediterranean fever. Clinical Rheumatology 38:3, pages 635-643.
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Junichi Watanabe, Ken Sato, Yukiko Osawa, Toshikatsu Horiuchi, Shoichiro Kato, Reina Hikota-Saga, Takaaki Maekawa, Takeshi Yamamura, Ayako Kobayashi, Shinichi Kobayashi & Fumihiko Kimura. (2018) CBL mutation and MEFV single-nucleotide variant are important genetic predictors of tumor reduction in glucocorticoid-treated patients with chronic myelomonocytic leukemia. International Journal of Hematology 108:1, pages 47-57.
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Taizo Wada, Tomoko Toma, Hanae Miyazawa, Eiko Koizumi, Tetsujiro Shirahashi, Yusuke Matsuda & Akihiro Yachie. (2018) Longitudinal analysis of serum interleukin-18 in patients with familial Mediterranean fever carrying MEFV mutations in exon 10. Cytokine 104, pages 143-146.
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Gokce Celikyapi Erdem, Sule Erdemir, Irem Abaci, Asli K. Kirectepe Aydin, Elif Everest & Eda Tahir Turanli. (2017) Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models. Genetics and Molecular Biology 40:3, pages 688-697.
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