Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease

TOPALOĞLU R., BATU AKAL E. D., Yildiz C., Korkmaz E., ÖZEN S., BEŞBAŞ N., ...Daha Fazla

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, cilt.21, sa.10, ss.1857-1862, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 10
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1111/1756-185x.12929
  • Dergi Adı: INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1857-1862
  • Anahtar Kelimeler: familial Mediterranean fever, E148Q, MEFV gene, variant of unknown significance, MEFV GENE, MUTATION, FREQUENCY, FMF, DIAGNOSIS, COLCHICINE, CRITERIA, CHILDREN, TURKEY, PYRIN
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Aim: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations.