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Article

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

Annals of the rheumatic diseases - 1 May 2005

Topaloglu R, Ozaltin F, Yilmaz E, Ozen S, Balci B, Besbas N, Bakkaloglu A

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE: To evaluate the phenotypic features...

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Identifiers

PMID: 15458961
DOI: 10.1136/ard.2004.026963
PMCID: PMC1755471

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.PMID 15458961Read ↗

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Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern LebanonSemantic proximity Read ↗

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

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

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

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