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Article

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?

Genetic testing and molecular biomarkers - 1 Jan 2000

Berdeli Afig, Mir Sevgi, Nalbantoglu Sinem, Kutukculer Necil, Sozeri Betül, Kabasakal Yasemin, Cam Sirri, Solak Mustafa

Abstract excerpt

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an...

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Identifiers

PMID: 21413889
DOI: 10.1089/gtmb.2010.0146

Genes

MEFV

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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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