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., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/1471-2350-15-74
  • Dergi Adı: BMC MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.