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Article

Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort.

Clinical and experimental rheumatology - 1 Jan 2000

Soylemezoglu Oguz, Kandur Yasar, Duzova Ali, Ozkaya Ozan, Kasapcopur Ozgür, Baskin Esra, Fidan Kibriya, Yalcinkaya Fatos

Abstract excerpt

OBJECTIVES: Presence of common MEFV gene mutations strengthened the diagnosis of FMF in addition to the typical clinical characteristics of FMF. However, there are also rare mutations. P369S, A744S, R761H, K695R, F479L are the main rare mutations in Turkish population. We aimed to evaluate FMF patients with a single allele MEFV mutation and to compare patients with common and rare mutations. METHODS: We...

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PMID: 26005881

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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