Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

Abstract excerpt

OBJECTIVE: To describe the main features and outcomes of a large cohort of adult familial Mediterranean fever (FMF) patients with one pathogenic MEFV mutations and compare them to FMF patients displaying 2 pathogenic MEFV mutations. METHODS: In a retrospective single-referential French center cohort of 581 patients with FMF, 178 FMF patients with one pathogenic mutation were retrieved and compared to 403 patients...

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