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Article

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.

European journal of medical genetics - 1 Jan 2000

Medlej-Hashim Myrna, Chouery Eliane, Salem Nabiha, Delague Valérie, Lefranc Gérard, Loiselet Jacques, Mégarbané André

Abstract excerpt

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was identified on chromosome 16, and 5 of the mutations discovered so far in the gene are most frequentl...

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Source

Identifiers

PMID: 20937419
DOI: 10.1016/j.ejmg.2010.10.001

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20937419-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.PMID 20937419Read ↗

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