MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods.

Abstract excerpt

Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is widespread in the Mediterranean, primarily among Turkish, Armenian, Arab and Jewish. This study aims to examine genotype distributions of common MEFV variants in the Turkish population using targeted NGS and to evaluate all rare mutations. It included...

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• Familial Mediterranean Fever
• Gene Frequency
• Genotype
• High-Throughput Nucleotide Sequencing
• Inflammasome and immune disorders