Exon 2: Is it the good police in familial mediterranean fever?

YAŞAR BİLGE N. Ş., SOLMAZ D., ŞENEL S., EMMUNGİL H., KILIÇ L., ÖNER S. Y., ...Daha Fazla

European Journal of Rheumatology, cilt.6, sa.1, ss.33-36, 2019 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5152/eurjrheum.2018.18115
  • Dergi Adı: European Journal of Rheumatology
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.33-36
  • Anahtar Kelimeler: E148Q, exon 2, exon 10, familial Mediterranean fever, M694V, MEFV MUTATIONS, GENE-MUTATIONS, FREQUENCY, REGION
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF.