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עמוד בית
Tue, 16.07.24

Original Articles

IMAJ | volume

Journal 11, November 2001
pages: 803-804

MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever

    Summary

    Background: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutation have been found.

    Objective: To analyze the phenotype-genotype correlations in North African Jews and Armedians with FMF.

    Methods: We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armedians with Familial Mediterranean Fever living in France.

    Results: M694V mutation was the most common mutation in Jews and in Armenians. Patients with M6801 homozygosity or M6801/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.

    Conclusions: This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.

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