Published in:
Open Access
01-11-2013 | Meeting abstract
OR2-002 – The risk of FMF in MEFV heterozygotes
Authors:
I Jéru, V Hentgen, E Cochet, P Duquesnoy, G Le Borgne, E Grimprel, K Stankovic Stojanovic, S Karabina, G Grateau, S Amselem
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be coincidental due to the very high rate of mutations in Mediterranean populations. …