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Published January 1, 2017 | Version v1
Journal article Open

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

Creators

  • 1. Istanbul Tech Univ, Grad Sch Sci Engn & Technol, Dr Orhan Ocalgiray Mol Biol Biotechnol & Genet Re, Mol Biol Genet & Biotechnol Dept, Istanbul, Turkey
  • 2. Istanbul Univ, Cerrahpasa Fac Med, Dept Internal Med, Div Rheumatol, TR-34098 Istanbul, Turkey
  • 3. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey

Description

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".

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