Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.

@article{Neocleous2015FamilialMF,
  title={Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.},
  author={Vassos Neocleous and Constantina Costi and Christina Kyriakou and Tassos C. Kyriakides and Christos Shammas and Nicos Skordis and Meropi Toumba and Sophia Kyriakou and Maria G Koliou and Marianna Kousparou and Margarita Onoufriou and Adamos Hadjipanayis and Michalis Iasonides and Vick N Atamyan and Alkis M Pierides and Violetta Christophidou-Anastasiadou and George A. Tanteles and Leonidas A. Phylactou},
  journal={Annals of human genetics},
  year={2015},
  volume={79 1},
  pages={20-7}
}
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 no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 3 times over the past 90 days. VIEW TWEETS

From This Paper

Topics from this paper.

Similar Papers

Loading similar papers…