INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, cilt.21, sa.10, ss.1857-1862, 2018 (SCI-Expanded)
Aim: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations.