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A missense mutation underlies defective SOCS4 function in a family with autoimmunity.
Arts, P; Plantinga, T S; van den Berg, J M; Gilissen, C; Veltman, J A; van Trotsenburg, A S; van de Veerdonk, F L; Kuijpers, T W; Hoischen, A; Netea, M G.
Afiliação
  • Arts P; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Plantinga TS; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Berg JM; Department of Pediatric Hematology, Immunology and Infectious Disease, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Veltman JA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Trotsenburg AS; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • van de Veerdonk FL; Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Kuijpers TW; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoischen A; Department of Pediatric Hematology, Immunology and Infectious Disease, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Netea MG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
J Intern Med ; 278(2): 203-10, 2015 Aug.
Article em En | MEDLINE | ID: mdl-25639832
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Família / Autoimunidade / Mutação de Sentido Incorreto / Doença de Hashimoto / Proteínas Supressoras da Sinalização de Citocina / Exoma Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Família / Autoimunidade / Mutação de Sentido Incorreto / Doença de Hashimoto / Proteínas Supressoras da Sinalização de Citocina / Exoma Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article