Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Leila RostamizadehLeila VahediSeied Rafi BahavarniaShahriar AlipourSomayeh AbolhasaniAlireza KhabaziEbrahim Sakhinia

Published in: Annals of human genetics (2019)

Genotype-phenotype correlations obtained from this study would be helpful in the diagnosis and management of FMF patients in clinical situations. This novel missense mutation may provide useful evidence for further studies of FMF pathogenesis.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
gene expression
genome wide
transcription factor