A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever


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DOĞAN H., AKDEMİR F., Tasdemir S., Atis O., Diyarbakir E., Yildirim R., ...More

BMC MEDICAL GENETICS, vol.15, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15
  • Publication Date: 2014
  • Doi Number: 10.1186/1471-2350-15-74
  • Journal Name: BMC MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Karadeniz Technical University Affiliated: Yes

Abstract

Background: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date.