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Article

Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations.

Reumatologia clinica - 1 Jan 2026

Kulaksiz Bilal, Acar Beste, Kizilkaya Oguzhan Omer, Aktas Berkay, Ugurlu Serdal

Abstract excerpt

AIM: Our study aimed to evaluate the clinical presentation, demographics and colchicine response in Familial Mediterranean Fever (FMF) patients with Exon 2 mutations (E148Q, R202Q) compared to those with Exon 10 mutations. METHODS: A single-center retrospective study was conducted on 98 adult FMF patients diagnosed between 2009 and 2019. Medical records of 41 patients with Exon 2 and 57 patients with Exon 10...

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Identifiers

PMID: 41628981
DOI: 10.1016/j.reumae.2026.502040

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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