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


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

ANNALS OF THE RHEUMATIC DISEASES, cilt.64, sa.5, ss.750-752, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64 Sayı: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1136/ard.2004.026963
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.750-752
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.