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Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan, Amber; van Eerde, Albertien M; Eijgelsheim, Mark; Rump, Patrick; van der Zwaag, Bert; Hennekam, Eric; Zivná, Martina; Kmoch, Stanislav; Bleyer, Anthony J; Kidd, Kendrah; Vogt, Liffert; Knoers, Nine V A M; de Borst, Martin H.
Afiliação
  • de Haan A; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Eijgelsheim M; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Hennekam E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Zivná M; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic.
  • Kmoch S; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Bleyer AJ; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Kidd K; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
  • Vogt L; Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • de Borst MH; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl.
Kidney Int ; 103(5): 986-989, 2023 05.
Article em En | MEDLINE | ID: mdl-37085259
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucina-1 / Nefrite Intersticial Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucina-1 / Nefrite Intersticial Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article