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A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
van Dijk, Myrthe J; van Oirschot, Brigitte A; Harrison, Alexander N; Recktenwald, Steffen M; Qiao, Min; Stommen, Amaury; Cloos, Anne-Sophie; Vanderroost, Juliette; Terrasi, Romano; Dey, Kuntal; Bos, Jennifer; Rab, Minke A E; Bogdanova, Anna; Minetti, Giampaolo; Muccioli, Giulio G; Tyteca, Donatienne; Egée, Stéphane; Kaestner, Lars; Molday, Robert S; van Beers, Eduard J; van Wijk, Richard.
Afiliación
  • van Dijk MJ; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • van Oirschot BA; Center for Benign Hematology, Thrombosis and Hemostasis-Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Harrison AN; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Recktenwald SM; Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
  • Qiao M; Department of Experimental Physics, Saarland University, Saarbrücken, Germany.
  • Stommen A; Department of Experimental Physics, Saarland University, Saarbrücken, Germany.
  • Cloos AS; Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany.
  • Vanderroost J; CELL Unit and PICT Platform, de Duve Institute, UCLouvain, Brussels, Belgium.
  • Terrasi R; CELL Unit and PICT Platform, de Duve Institute, UCLouvain, Brussels, Belgium.
  • Dey K; CELL Unit and PICT Platform, de Duve Institute, UCLouvain, Brussels, Belgium.
  • Bos J; Bioanalysis and Pharmacology of Bioactive Lipids Research Group, Louvain Drug Research Institute, UCLouvain, Brussels, Belgium.
  • Rab MAE; Red Blood Cell Group, Institute of Veterinary Physiology, University of Zurich, Zurich, Switzerland.
  • Bogdanova A; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Minetti G; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Muccioli GG; Department of Hematology, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Tyteca D; Red Blood Cell Group, Institute of Veterinary Physiology, University of Zurich, Zurich, Switzerland.
  • Egée S; Department of Biology and Biotechnology "L. Spallanzani", Laboratories of Biochemistry, University of Pavia, Pavia, Italy.
  • Kaestner L; Bioanalysis and Pharmacology of Bioactive Lipids Research Group, Louvain Drug Research Institute, UCLouvain, Brussels, Belgium.
  • Molday RS; CELL Unit and PICT Platform, de Duve Institute, UCLouvain, Brussels, Belgium.
  • van Beers EJ; UMR 8227 CNRS-Sorbonne Université, Station Biologique de Roscoff, Roscoff, France.
  • van Wijk R; Department of Experimental Physics, Saarland University, Saarbrücken, Germany.
Am J Hematol ; 98(12): 1877-1887, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37671681
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatidilserinas / Anemia Hemolítica Congénita Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hematol Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatidilserinas / Anemia Hemolítica Congénita Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Hematol Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos