Exon 2: Is it the good police in familial mediterranean fever?


Bilge S. Y. , Solmaz D., Senel S., Emmungil H., KILIÇ L., Oner S. Y. , ...More

EUROPEAN JOURNAL OF RHEUMATOLOGY, vol.6, no.1, pp.34-37, 2019 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.5152/eurjrheum.2018.18115
  • Title of Journal : EUROPEAN JOURNAL OF RHEUMATOLOGY
  • Page Numbers: pp.34-37
  • Keywords: E148Q, exon 2, exon 10, familial Mediterranean fever, M694V, MEFV MUTATIONS, GENE-MUTATIONS, FREQUENCY, REGION

Abstract

Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF.