P01-022 – MEFV gene mutations registered to infevers
Makaleler > Tam Makale · 2013
Yazarlar: Afig BERDELİ, S Nalbantoglu, D Tigli, I Demirel, M Atan
Pediatric Rheumatology, Uluslararası, Wos, 2013, cilt 11
DOI: 10.1186/1546-0096-11-s1-a26
Özet
Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.