Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

Coskunpinar E., Ozvarnali A., Cefle K., Palanduz A., Gül A., Ozturk D., ...Daha Fazla

HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI, cilt.56, sa.1, ss.42-49, 2018 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/haseki.42714
  • Dergi Adı: HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.42-49
  • Anahtar Kelimeler: Familial Mediterranean Fever, MEFV gene, pyrosequencing, mutation, PHENOTYPE-GENOTYPE CORRELATION, AMYLOIDOSIS, FMF, POPULATION, APOPTOSIS, TURKEY, JEWISH, PYRIN
  • İstanbul Üniversitesi Adresli: Evet

Özet

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called "attacks". In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population.