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Article

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Human mutation - 1 Oct 2003

Tchernitchko Dimitri, Legendre Marie, Cazeneuve Cécile, Delahaye Andrée, Niel Florence, Amselem Serge

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis, common in populations of Armenian, Arab, Sephardic Jewish and Turkish origin. Early diagnosis is crucial to start colchicine therapy that prevents the occurrence of att...

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Source

Identifiers

PMID: 12955725
DOI: 10.1002/humu.9182

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12955725-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.PMID 12955725Read ↗

Is E148Q a Benign Polymorphism or a Disease-causing Mutation?: Table 1.Semantic proximity Read ↗

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

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.Semantic proximity Read ↗

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.Semantic proximity Read ↗

Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.Semantic proximity Read ↗

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?Semantic proximity Read ↗

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.Semantic proximity Read ↗

E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?Semantic proximity Read ↗

Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.Semantic proximity Read ↗

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.Semantic proximity Read ↗

The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Semantic proximity Read ↗

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.Semantic proximity Read ↗

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