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Article

Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.

Genetic testing - 1 Sept 2008

Solak Mustafa, Yildiz Handen, Koken Resit, Erdogan Muggan, Eser Betul, Sen Tolga, Evirgen Neslihan, Erdem Solmaz, Arikan Eurim

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein. In this study, we analyzed the most common five mutations in MEFV gene of 202 patients who were diagnosed formerly as FMF according to Tel-Hashomer criteria. The results of genetical analysis, clinical symptoms, and demographical aspects of those patients were evaluated...

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Source

Identifiers

PMID: 18662100
DOI: 10.1089/gte.2008.0009

Genes

MEFV

Variants

Provenance

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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