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Article

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Arthritis and rheumatism - 1 Jun 2009

Booty Matthew G, Chae Jae Jin, Masters Seth L, Remmers Elaine F, Barham Beverly, Le Julie M, Barron Karyl S, Holland Steve M, Kastner Daniel L, Aksentijevich Ivona

Abstract excerpt

OBJECTIVE: Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation. The purpose of this study was to perform an extensive search for a second MEFV mutation in 46 patients diagnosed clinically as having FMF and carrying only 1 high-penetrance...

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Source

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Identifiers

PMID: 19479870
DOI: 10.1002/art.24569
PMCID: PMC2753538

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.

Related research

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Familial Mediterranean fever with a single MEFV mutation: where is the second hit?PMID 19479870Read ↗

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