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A missense mutation underlies defective SOCS4 function in a family with autoimmunity
Authors:P. Arts  T. S. Plantinga  J. M. van den Berg  C. Gilissen  J. A. Veltman  A. S. van Trotsenburg  F. L. van de Veerdonk  T. W. Kuijpers  A. Hoischen  M. G. Netea
Affiliation:1. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands;2. Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;3. Department of Pediatric Hematology, Immunology and Infectious Disease, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;4. Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands;5. Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Abstract:
Keywords:autoimmunity     EGF     exome sequencing  interleukin‐6  SOCS4
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