Τίτλος:
Different intrafamilial clinical presentation of FMF mutation carriers
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Chalevelakis, G.
Apostolakis, I.
Koliou, X.
Apessos, A.
Kyriakopoulou, V.
Vrakidou, E.
Vasilopoulou, A.
Lamnisou, K.
Nasioulas, G.
Περιοδικό:
Genetic Testing
Λέξεις-κλειδιά:
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
DOI:
10.1089/gte.2007.0068
