TY - JOUR
TI - Different intrafamilial clinical presentation of FMF mutation carriers
AU - Chalevelakis, G.
AU - Apostolakis, I.
AU - Koliou, X.
AU - Apessos, A.
AU - Kyriakopoulou, V.
AU - Vrakidou, E.
AU - Vasilopoulou, A.
AU - Lamnisou, K.
AU - Nasioulas, G.
JO - Genetic Testing
PY - 2008
VL - 12
TODO - 1
SP - 125-127
PB - 
SN - 1090-6576, 1557-7473
TODO - 10.1089/gte.2007.0068
TODO - article;  clinical feature;  DNA extraction;  familial Mediterranean fever;  family history;  gene mutation;  genetic analysis;  genotype;  heterozygote;  human;  pedigree analysis, Adolescent;  Adult;  Amino Acid Substitution;  Cytoskeletal Proteins;  DNA;  Familial Mediterranean Fever;  Female;  Genotype;  Heterozygote;  Humans;  Male;  Mutation;  Pedigree;  Phenotype
TODO - 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. © Copyright 2008, Mary Ann Liebert, Inc.
ER -