E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

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作者： Elham,Orouk Awaad ^[1] ; Lana,Khoury ^[1] ; Joeri W,van Straalen ^[2] ; Adi,Miller-Barmak ^[1] ; Tal,Gazitt ^[3] ; Jumana,Haddad-Haloun ^[4] ; Riva,Brik ^[1] ; Mohamad,Hamad Saied ^[5]

作者单位： Department of Pediatrics, Lady Davis Carmel Medical Center, Haifa, Israel.;Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. ^[1] Department of Pediatric Immunology and Rheumatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. box 85090, 3508 AB, Utrecht, the Netherlands. ^[2] Rheumatology Unit, Carmel Medical Center, Haifa, Israel.;Division of Rheumatology, Department of Medicine, University of Washington Medical Center, Seattle, WA, USA.;Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. ^[3] Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel. ^[4] Department of Pediatrics, Lady Davis Carmel Medical Center, Haifa, Israel. Mohamad.hmd@gmail.com.;Department of Pediatric Immunology and Rheumatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. box 85090, 3508 AB, Utrecht, the Netherlands. Mohamad.hmd@gmail.com.;Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Mohamad.hmd@gmail.com. ^[5]

关键词 Druze Ethnicity FMF Familial Mediterranean fever p.E148Q p.V726A