Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease.

Abstract excerpt

OBJECTIVES: The aim of this study was to investigate the clinical associations of the second allele mutations and the effect of genotype and presenting features on colchicine resistance in children with familial Mediterranean fever (FMF), carrying at least one M694V variant. METHODS: The medical records of the patients diagnosed with FMF, in whom at least one allele M694V mutation was detected, were reviewed....

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