@article{3132260,
    title = "Different intrafamilial clinical presentation of FMF mutation carriers",
    author = "Chalevelakis, G. and Apostolakis, I. and Koliou, X. and Apessos, A. and Kyriakopoulou, V. and Vrakidou, E. and Vasilopoulou, A. and Lamnisou, K. and Nasioulas, G.",
    journal = "Genetic Testing",
    year = "2008",
    volume = "12",
    number = "1",
    pages = "125-127",
    issn = "1090-6576, 1557-7473",
    doi = "10.1089/gte.2007.0068",
    keywords = "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",
    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. © Copyright 2008, Mary Ann Liebert, Inc."
}