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Article

The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.

Clinical rheumatology - 1 Jul 2026

Aktaş Abdülvahhap, Aljaber Yousef, Avad Huda, Cansu Döndü Ü, Bal Cengiz, Korkmaz Cengiz

Abstract excerpt

OBJECTıVE: Our objective was to compare the clinical characteristics of heterozygous E148Q-positive familial Mediterranean fever (FMF) patients with those of E148Q/M694, M694V-homozygous, and M694V-heterozygous-positive patients. METHODS: Tel-Hashomer classification criteria were used to diagnose FMF. Exons 2, 3, 5, and 10 MEFV mutations were evaluated using the multiplex-PCR reverse hybridization method. The...

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Age of Onset
Colchicine
Familial Mediterranean Fever
Heterozygote
Homozygote

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Severity of Illness Index

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Identifiers

PMID: 42101754
DOI: 10.1007/s10067-026-08142-7
PMCID: PMC13342405

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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