Article
Familial Mediterranean fever diagnosed by PCR.
Scandinavian journal of infectious diseases - 1 Jan 2000
Mohey R, Kelsen J, Tarp B, Obel N
Abstract excerpt
The diagnosis of familial Mediterranean fever (FMF) was, until recently, based on exclusion of diseases with related clinical signs. Now an exact diagnosis of FMF is possible by polymerase chain reaction (PCR). We report here a case with 2 different mutations in the gene responsible for FMF, thereby being a compound heterozygote (M694V/V726A).
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