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Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency ofMEFVgene mutations in Japanese and Mediterranean populations

2008-02-01

Abstract excerpt

We report on three Japanese patients (two families) with familial Mediterranean fever (FMF), a rare disease in the Far East. Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q. Although the M694I mutation is less common among Mediterranean population...

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Literature Corpus work: ee0a0206-6327-5d60-b379-fb48b7ce7779
DOI: 10.3109/s10165-007-0003-2

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Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of<i>MEFV</i>gene mutations in Japanese and Mediterranean populations

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