Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort

Soylemezoglu O., Kandur Y., DÜZOVA A., Ozkaya O., KASAPÇOPUR Ö., Baskin E., ...Daha Fazla

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.33, sa.6, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 6
  • Basım Tarihi: 2015
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Objective. Presence of common MEFV gene mutations strengthened the diagnosis of FMF in addition to the typical clinical characteristics of FMF. However, there are also rare mutations. P369S, A744S, R761H, K695R, F479L are the main rare mutations in Turkish population. We aimed to evaluate FMF patients with a single allele MEFV mutation and to compare patients with common and rare mutations.