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Article

Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.

Genes and immunity - 1 Apr 2009

Notarnicola C, Boizet-Bonhoure B, de Santa Barbara P, Osta M A, Cattan D, Touitou I

Abstract excerpt

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease commonly found in the Mediterranean populations. Genetic diagnosis has developed since the discovery of the causative gene MEFV in 1997. As many patients could not be confirmed genetically by routine exon screening, we searched for mutations in the 5'-flanking region of this gene. Using denaturing gradient gel electrophoresis, we screened...

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Source

Identifiers

PMID: 19262573
DOI: 10.1038/gene.2009.8

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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