MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey

YİĞİT S., Bagci H., Ozkaya O., Ozdamar K., Cengiz K., Akpolat T.

JOURNAL OF RHEUMATOLOGY, vol.35, no.1, pp.106-113, 2008 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 1
  • Publication Date: 2008
  • Journal Name: JOURNAL OF RHEUMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.106-113
  • Keywords: familial Mediterranean fever, MEFV, diagnosis, Black Sea region, amyloidosis, GENOTYPE-PHENOTYPE CORRELATION, DIAGNOSTIC-VALUE, GENE-MUTATIONS, RENAL AMYLOIDOSIS, CARRIER RATES, SPECTRUM, FMF, POLYMORPHISMS, INDIVIDUALS, ASSOCIATION
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Objective. To investigate MEFV mutations among patients with familial Mediterranean fever (IMF), their relatives, and healthy controls in the Black Sea region of Turkey; to compare 3 different MEFV mutation analysis methods; to evaluate the role of MEFV mutations in the diagnosis of IMF; and to investigate the role of M694V in the development of amyloidosis.