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Basic and translational research
Extended report
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Authors

  • Monique Stoffels Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Agata Szperl Department of Genetics, UMC Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Anna Simon Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Mihai G Netea Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Theo S Plantinga Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Marcel van Deuren Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Sylvia Kamphuis Sophia Children's Hospital, Erasmus UMC, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Helen J Lachmann Division of Medicine, University College London Medical School, Royal Free Campus, National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, London, UK PubMed articlesGoogle scholar articles
  • Edwin Cuppen Department of Medical Genetics, UMC Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Wigard P Kloosterman Department of Medical Genetics, UMC Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Joost Frenkel Department of Pediatrics, UMC Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Cleo C van Diemen Department of Genetics, UMC Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Cisca Wijmenga Department of Genetics, UMC Groningen, Groningen, The Netherlands PubMed articlesGoogle scholar articles
  • Marielle van Gijn Department of Medical Genetics, UMC Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Jos W M van der Meer Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Monique Stoffels, Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, 463 UMC St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands; m.stoffels{at}outlook.com
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Citation

Stoffels M, Szperl A, Simon A, et al
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease
Annals of the Rheumatic Diseases 2014;73:455-461.

Publication history

  • Accepted February 24, 2013
  • First published March 16, 2013.
Online issue publication 
October 25, 2017

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