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Article

Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.

QJM : monthly journal of the Association of Physicians - 1 Oct 2001

Booth D R, Lachmann H J, Gillmore J D, Booth S E, Hawkins P N

Abstract excerpt

Familial Mediterranean fever (FMF) is caused by more than 25 mutations in the gene MEFV, which encodes pyrin (marenostrin), a protein implicated in the regulation of neutrophil activity. Pyrin Q148, is one of the five most common variants in populations in which FMF typically occurs. Our identification of the pyrin Q148 allele in several patients from ethnic groups in which FMF is not classically recognized who...

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Identifiers

PMID: 11588211
DOI: 10.1093/qjmed/94.10.527

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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