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M680I/M694V Heterozygous mutation in early onset familial mediterranean fever

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Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain.

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Nội dung Text: M680I/M694V Heterozygous mutation in early onset familial mediterranean fever

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