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Article

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

Modern rheumatology - 1 Apr 2010

Oshima Koichi, Yamazaki Kazuko, Nakajima Yoichi, Kobayashi Akari, Kato Tomochika, Ohara Osamu, Agematsu Kazunaga

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited fever attacks and serositis/arthritis. The M694V, M694I, M680I, V726A, and E148Q mutations in MEFV, the gene responsible for FMF, account for most FMF cases in Mediterranean populatio...

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Source

Identifiers

PMID: 19967574
DOI: 10.1007/s10165-009-0249-y

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19967574-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.PMID 19967574Read ↗

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