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Article

Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Miyashita Kengo, Matsuda Yusuke, Okajima Michiko, Toma Tomoko, Yachie Akihiro, Wada Taizo

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical FMF. Most Japanese patients with typical FMF are compound heterozygotes of M694I in exon 10 and E148Q in exon 2. However, the pathogenic role of E148Q remains controversial. METHODS: We assessed symptoms and serum cytokines among patients with FMF...

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PMID: 33715276
DOI: 10.1111/ped.14696

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