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Article

Familial Mediterranean fever without MEFV mutations: a case-control study.

Orphanet journal of rare diseases - 25 Mar 2015

Ben-Zvi Ilan, Herskovizh Corinne, Kukuy Olga, Kassel Yonatan, Grossman Chagai, Livneh Avi

Abstract excerpt

BACKGROUND: Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this subset. METHODS:...

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Source

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Identifiers

PMID: 25887307
DOI: 10.1186/s13023-015-0252-7
PMCID: PMC4377009

Genes

MEFV

Provenance

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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