Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF


Karacan I. , Ugurlu S., Tolun A., Turanli E. T. , Ozdogan H.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.35, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 35 Konu: 6
  • Basım Tarihi: 2017
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Özet

Objective. No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF".