Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia

Abstract

Familial Mediterranean fever (FMF) is one of the most common hereditary recurrent fever syndromes (OMIM #249100) characterised by abdominal pain, pleuritis, arthritis and sudden recurrent unprovoked episodes of fever [1]. To date, approximately 80 mutations in MEFV have been associated with a FMF phenotype [2]. However, a mere five common mutations account… (More)
DOI: 10.1007/s00296-010-1604-1

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