Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV

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Abstract

These findings indicated that E148Q may contribute to disease development of FMF in Japanese patients carrying the heterozygous M694I mutation in MEFV and that genetic testing of both parents would lead to better counseling for their children.

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• → A Japanese Patient with Familial Mediterranean Fever Associated with Compound Heterozygosity for Pyrin Variant E148Q/M694I(2005)31 cited
• → Familial Mediterranean Fever and E148Q Pyrin Gene Mutation in Greece(2005)20 cited
• [Familial Mediterranean fever as representative autoinflammatory disease].(2009)
• → A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan(2009)5 cited
• → Genetic Screening of Familial Mediterranean Fever in Japan.(2006)