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 Suppl 94, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 6 Suppl 94
  • Basım Tarihi: 2015
  • Dergi Adı: Clinical and experimental rheumatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: familial Mediterranean fever, genotype, phenotype, rare mutations, DIAGNOSTIC-VALUE, POPULATION-GENETICS, PHENOTYPE, FMF, GENOTYPE, CHILDREN, CHILDHOOD, FEATURES, CRITERIA, TURKEY
  • Gazi 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.