Characterization of new mutations in the 5′-flanking region of the familial Mediterranean fever gene

@article{Notarnicola2009CharacterizationON,
  title={Characterization of new mutations in the 5′-flanking region of the familial Mediterranean fever gene},
  author={C{\'e}cile Notarnicola and Brigitte Boizet-Bonhoure and Pascal de Santa Barbara and Mike A Osta and Daniel Cattan and Isabelle Touitou},
  journal={Genes and Immunity},
  year={2009},
  volume={10},
  pages={273-279}
}
Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease commonly found in the Mediterranean populations. Genetic diagnosis has developed since the discovery of the causative gene MEFV in 1997. As many patients could not be confirmed genetically by routine exon screening, we searched for mutations in the 5′-flanking region of this gene. Using denaturing gradient gel electrophoresis, we screened DNA from 108 patients with clinical FMF and 91 asymptomatic individuals. We found… CONTINUE READING

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