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, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 6
  • Basım Tarihi: 2015
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

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.