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Abstracts tagged "Loss of function"

  • Abstract Number: 2810 • ACR/ARP Annual Meeting 2019

    Does Loss-of-function Variants in SAT1 Cause X-linked Pediatric Lupus?

    Ling-Xiao Xu 1, Jian Zhao 2, Qing Sun 2, Lin-Yu Geng 2, Yun Deng 2, Diane Kamen 2, Jim Oates 3, Prithvi Raj 4, Edward Wakeland 4, R.Hal Scofield 5, Joel Guthridge 6, Judith James 6, Deborah McCurdy 7 and Betty Tsao8, 1Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charelston, SC, 2Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charleston, SC, 3Division of Rheumatology & Immunology/Medical University of South Carolina, Charleston, SC, 4Department of Immunology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Dallas, 5Arthritis & Clinical Immunology Research Program, Division of Genomics and Data Sciences, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA, Los Angeles, 6Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 7University of California, MDCC 12-430, 10833 Le Conte Ave, Los Angeles, 90095, CA, USA, Los Angeles, 8Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA., Charleston

    Background/Purpose: Mendelian inheritances of highly penetrant single gene variants have been reported as monogenic forms of SLE. To explore novel risk variants, we carried out…
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