1.
Genet Test
; 12(1): 125-7, 2008 Mar.
Article
in English
| MEDLINE
| ID: mdl-18318646
ABSTRACT
Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.