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Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.
van Well, Gijs T J; Kant, Benjamin; van Nistelrooij, Annabel; Sirma Ekmekci, Sema; Henriet, Stefanie V; Hoppenreijs, Esther; van Deuren, Marcel; van Montfrans, Joris; Nierkens, Stefan; Gül, Ahmet; van Gijn, Mariëlle E.
Afiliação
  • van Well GTJ; Department of Paediatrics and School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Kant B; Department of Genetics, University Medical Centre Utrecht, The Netherlands.
  • van Nistelrooij A; Department of Paediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Sirma Ekmekci S; Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey.
  • Henriet SV; Department of Paediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Hoppenreijs E; Department of Paediatric Rheumatology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van Deuren M; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • van Montfrans J; Department of Paediatric Immunology, University Medical Centre Utrecht, The Netherlands.
  • Nierkens S; Centre for Translational Immunology, University Medical Centre Utrecht, The Netherlands.
  • Gül A; Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Turkey. agul@istanbul.edu.tr.
  • van Gijn ME; Department of Genetics, University Medical Centre Groningen, The Netherlands. m.e.van.gijn@umcg.nl.
Clin Exp Rheumatol ; 37 Suppl 121(6): 142-146, 2019.
Article em En | MEDLINE | ID: mdl-31856934
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Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Síndrome de Behçet / Peptídeos e Proteínas de Sinalização Intercelular / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda
Buscar no Google
Imprimir
XML
PubMed Links

Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Síndrome de Behçet / Peptídeos e Proteínas de Sinalização Intercelular / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda