First report of MEFV duplication in FMF patient


Introduction Familial mediterranean fever (FMF) is a rare monogenic disease and the prototype of autoinflammatory disorders. It is caused by mutations in the MEFV gene and is autosomal recessively inherited. Most mutations are missense substitutions, small deletions are quite rare, and only three nonsense mutation has been described (http://fmf.igh.cnrs. fr… (More)


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