Orhan Görükmez

The Frequency of Familial Mediterranean Fever Gene Mutations and the Correlations between Phenotype and Genotype in Turkish Children

Hakan Erdogan, Ayse Cavidan Sonkur, Orhan Görükmez, Ayse Erdogan, Dilek Damla Saymazlar & Fatih Unal · Asian Journal of Pediatric Research · 2020

Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 mal...