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Article

A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I.

Internal medicine (Tokyo, Japan) - 1 Mar 2005

Nakamura Akinori, Yazaki Masahide, Tokuda Takahiko, Hattori Takeshi, Ikeda Shu-ichi

Abstract excerpt

Familial Mediterranean fever (FMF) is an inherited inflammatory disease occurring mainly in Mediterranean and Middle Eastern populations. FMF is caused by mutations in the MEFV gene that encodes pyrin/marenostrin. Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing. Her father and elder sister were...

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Identifiers

PMID: 15805719
DOI: 10.2169/internalmedicine.44.261

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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