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Article

[Role of genetics in familial Mediterranean fever].

Zeitschrift fur Rheumatologie - 1 May 2017

Kallinich T, Orak B, Wittkowski H

Abstract excerpt

Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever (MEFV) gene. These gain of function mutations lead to an increased activation of the inflammasome pyrin with a subsequent disproportional proinflammatory reaction. Classically, in FMF patients two pathogenic mutations affecting both alleles are found in the molecular genetic analysis; however, it is well known that the...

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Identifiers

PMID: 28154935
DOI: 10.1007/s00393-017-0265-9

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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