E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever


Topaloglu R., Ozaltin F., Yilmaz E., Ozen S., Balci B., Besbas N. , ...More

ANNALS OF THE RHEUMATIC DISEASES, vol.64, no.5, pp.750-752, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 5
  • Publication Date: 2005
  • Doi Number: 10.1136/ard.2004.026963
  • Title of Journal : ANNALS OF THE RHEUMATIC DISEASES
  • Page Numbers: pp.750-752

Abstract

Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association.