Article
Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).
Genetic testing and molecular biomarkers - 1 Jun 2010
Albayrak Fatih, Selcuk Nedim Yilmaz, Odabas Ali R, Cetinkaya Ramazan, Pirim Ibrahim
Abstract excerpt
AIMS: Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease. Clinical symptoms and findings (phenotypes) seen in this disease are generally fever, abdominal pain, and arthritis. Amyloidosis is also a significant complication. Phenotype-genotype correlations in FMF have not been conclusively resolved. The aims of this study were to find the most frequent mutation/genotype of FMF, as well...
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