Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV.
Kengo MiyashitaYusuke MatsudaMichiko OkajimaTomoko TomaAkihiro YachieTaizo WadaPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2021)
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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