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Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova, Elena B; Beuger, Boukje M; Veldthuis, Martijn; van der Werff Ten Bosch, Jutte; Kühnle, Ingrid; van den Akker, Emile; van den Berg, Timo K; van Zwieten, Rob; van Bruggen, Robin.
Afiliación
  • Kostova EB; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands.
  • Beuger BM; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands.
  • Veldthuis M; Laboratory for Red Blood Cell Diagnostics, Sanquin, Amsterdam, The Netherlands.
  • van der Werff Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Kühnle I; Department of Pediatrics, University Medicine Göttingen, Göttingen, Germany.
  • van den Akker E; Department of Hematopoiesis, Sanquin Research and Landsteiner Laboratory, Amsterdam, The Netherlands.
  • van den Berg TK; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands.
  • van Zwieten R; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Red Blood Cell Diagnostics, Sanquin, Amsterdam, The Netherlands.
  • van Bruggen R; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: r.vanbruggen@sanquin.nl.
Exp Hematol ; 43(12): 1072-1076.e2, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26320718
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatidilserinas / Eritroblastos / Eritropoyesis / Linfohistiocitosis Hemofagocítica / Proteínas Munc18 / Mutación Límite: Female / Humans / Male Idioma: En Revista: Exp Hematol Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatidilserinas / Eritroblastos / Eritropoyesis / Linfohistiocitosis Hemofagocítica / Proteínas Munc18 / Mutación Límite: Female / Humans / Male Idioma: En Revista: Exp Hematol Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos