Article
MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever.
Modern rheumatology - 1 Nov 2021
Fujimoto Kyoko, Hidaka Yukiko, Koga Takuma, Kaieda Shinjiro, Yamasaki Satoshi, Nakashima Munetoshi, Hoshino Tomoaki, Yamamoto Ken, Nishikomori Ryuta, Ida Hiroaki
Abstract excerpt
OBJECTIVE: To investigate the genetic characteristics of one of the MEFV gene variants, p.Glu148Gln (E148Q), in patients with familial Mediterranean fever (FMF) and examine its significance in Japanese patients with recurrent fever. METHODS: The clinical phenotype and genomic variants of systemic autoinflammatory diseases (SAIDs), including MEFV, were analyzed in 211 Japanese patients with recurrent fever....
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