Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Oksuz M. F., Karkucak M., Gorukmez O., OCAKOĞLU G., YILDIZ A., Ture M., ...Daha Fazla

REVISTA BRASILEIRA DE REUMATOLOGIA, cilt.57, sa.6, ss.501-506, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.rbre.2016.02.004
  • Dergi Adı: REVISTA BRASILEIRA DE REUMATOLOGIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.501-506
  • Anahtar Kelimeler: Familial Mediterranean fever, MEFV gene, Polymorphism, TURKISH POPULATION, MUTATION FREQUENCY, TURKEY, AMYLOIDOSIS, CHILDREN, FMF, MULTICENTER, PHENOTYPE, REGION, RISK
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease.