The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey

@article{Kocakap2013TheFO,
  title={The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey},
  author={Derya Beyza Sayın Kocakap and Ayşen G{\"u}nel-{\"O}zcan and Feryal Çabuk and C{\"u}neyt Ensari},
  journal={Molecular Biology Reports},
  year={2013},
  volume={41},
  pages={1419-1426}
}
In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to Kırıkkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey’s mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations… CONTINUE READING
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