title: Familial Mediterranean fever diagnosed by PCR.
abstract: 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).
authors.affiliation: Department of Infectious Diseases, Marselisborg Hospital, Aarhus, Denmark.
authors.forename: R
authors.initials: R
authors.lastname: Mohey
authors.forename: J
authors.initials: J
authors.lastname: Kelsen
authors.forename: B
authors.initials: B
authors.lastname: Tarp
authors.forename: N
authors.initials: N
authors.lastname: Obel
mesh_terms: D000328:Adult; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin