Şule Yaşar Bilge, Dilek Solmaz, Soner Şenel, Hakan Emmungil, Levent Kılıç, Sibel Yılmaz Öner, Fatih Yıldız, Sedat Yılmaz, Duygu Ersözlü Bozkırlı, Müge Aydın Tufan, Sema Yılmaz, Veli Yazısız, Yavuz Pehlivan, Cemal Beş, Gözde Yıldırım Çetin, Şükran Erten, Emel Gönüllü, Fezan Şahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Bünyamın Kısacık, Mehmet Sayarlıoğlu, Muhammed Çınar, Timuçin Kaşifoğlu, İsmail Sarı
OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. METHODS: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics...
October 12, 2018: European Journal of Rheumatology