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Article

The spectrum of Familial Mediterranean Fever (FMF) mutations.

European journal of human genetics : EJHG - 1 Jul 2001

Touitou I

Abstract excerpt

Familial Mediterranean Fever (FMF) is the prototype of a group of inherited inflammatory disorders. The gene (MEFV) responsible for this disease, comprises 10 exons and 781 codons. Twenty-nine mutations, most located in the last exon, have been identified so far. It is unclear whether all are true disease-causing mutations. Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF...

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Source

Identifiers

PMID: 11464238
DOI: 10.1038/sj.ejhg.5200658

Genes

MEFV

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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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