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Article

One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.

Rheumatology international - 1 Jan 2018

Kishida Dai, Yazaki Masahide, Nakamura Akinori, Nomura Fumio, Kondo Takeshi, Uehara Takanori, Ikusaka Masatomi, Ohya Akira, Watanabe Norihiko, Endo Ryuta, Kawaai Satoshi, Shimojima Yasuhiro, Sekijima Yoshiki

Abstract excerpt

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified...

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Identifiers

PMID: 29151129
DOI: 10.1007/s00296-017-3886-z

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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