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Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
Almomani, Rowida; Herkert, Johanna C; Posafalvi, Anna; Post, Jan G; Boven, Ludolf G; van der Zwaag, Paul A; Willems, Peter H G M; van Veen-Hof, Ingrid H; Verhagen, Judith M A; Wessels, Marja W; Nikkels, Peter G J; Wintjes, Liesbeth T; van den Berg, Maarten P; Sinke, Richard J; Rodenburg, Richard J; Niezen-Koning, Klary E; van Tintelen, J Peter; Jongbloed, Jan D H.
Afiliação
  • Almomani R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Herkert JC; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan.
  • Posafalvi A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands j.c.herkert@umcg.nl.
  • Post JG; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Boven LG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Zwaag PA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Willems PHGM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van Veen-Hof IH; Department of Biochemistry, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Verhagen JMA; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Nikkels PGJ; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Wintjes LT; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van den Berg MP; Department of Paediatrics, Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sinke RJ; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Rodenburg RJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Niezen-Koning KE; Department of Paediatrics, Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Tintelen JP; Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
J Med Genet ; 57(1): 23-30, 2020 01.
Article em En | MEDLINE | ID: mdl-31494578
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Superóxido Dismutase / Cardiomiopatia Dilatada / Mutação de Sentido Incorreto / Miocárdio Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Superóxido Dismutase / Cardiomiopatia Dilatada / Mutação de Sentido Incorreto / Miocárdio Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article