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Article

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

European journal of human genetics : EJHG - 1 Feb 2002

Gershoni-Baruch Ruth, Brik Riva, Shinawi Marwan, Livneh Avi

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurring attacks of fever and serositis. Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. The wide clinical variability of the di...

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Source

Identifiers

PMID: 11938447
DOI: 10.1038/sj.ejhg.5200776

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11938447-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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