Article
Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.
Clinical genetics - 1 Dec 2014
Sedivá A, Horváth R, Maňásek V, Gregorová A, Plevová P, Horáčková M, Tesařová M, Toplak N, Debeljak M
Abstract excerpt
Familial Mediterranean fever (FMF) is a well-described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene without provable ancestry from the Mediterranean region. We also discuss the clinical picture of the heterozygous...
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