Article
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
Annals of human genetics - 1 Jan 2015
Neocleous Vassos, Costi Constantina, Kyriakou Christina, Kyriakides Tassos C, Shammas Christos, Skordis Nicos, Toumba Meropi, Kyriakou Sophia, Koliou Maria, Kousparou Marianna, Onoufriou Margarita, Hadjipanayis Adamos, Iasonides Michalis, Atamyan Vick N, Pierides Alkis, Christophidou-Anastasiadou Violetta, Tanteles George A, Phylactou Leonidas A
Abstract excerpt
Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had...
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