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Article

Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.

International journal of rheumatic diseases - 1 Oct 2018

Topaloglu Rezan, Batu Ezgi Deniz, Yıldız Çigdem, Korkmaz Emine, Özen Seza, Beşbaş Nesrin, Özaltın Fatih

Abstract excerpt

AIM: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations. METHODS: Thirty FMF patients homozygous for E148Q were reviewed. MEFV variant analysis was...

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PMID: 27457448
DOI: 10.1111/1756-185X.12929

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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