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Article

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

The Israel Medical Association journal : IMAJ - 1 Aug 2003

Zaks Nurit, Shinar Yael, Padeh Shai, Lidar Merav, Mor Adam, Tokov Irena, Pras Mordechai, Langevitz Pnina, Pras Elon, Livneh Avi

Abstract excerpt

BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells. OBJECTIVES: To present...

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Identifiers

PMID: 12929299

Genes

MEFV

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12929299-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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