Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population

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Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population

Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V,...

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Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2011

ISSN: 1546-0096

DOI: 10.1186/1546-0096-9-s1-p301