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A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot, Alexandre; Pascreau, Tiffany; Adam, Frédéric; Bruneel, Arnaud; Reperant, Christelle; Lourenco-Rodrigues, Marc-Damien; Rosa, Jean-Philippe; Petermann, Rachel; Maurey, Hélène; Auditeau, Claire; Lasne, Dominique; Denis, Cécile V; Bryckaert, Marijke; de Lonlay, Pascale; Lavenu-Bombled, Cécile; Melki, Judith; Borgel, Delphine.
Affiliation
  • Kauskot A; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex alexandre.kauskot@inserm.fr.
  • Pascreau T; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Adam F; AP-HP, Department of Biological Hematology, Hôpital Necker, Paris.
  • Bruneel A; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Reperant C; AP-HP, Biochemistry, Bichat University Hospital, Paris; INSERM UMR-1193, Université Paris-Sud, Châtenay-Malabry.
  • Lourenco-Rodrigues MD; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Rosa JP; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Petermann R; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Maurey H; INTS, Platelet Immunology Department, Paris.
  • Auditeau C; AP-HP, Department of Paediatric Neurology, Hôpital Bicêtre, Le Kremlin-Bicêtre.
  • Lasne D; AP-HP, Department of Biological Hematology, CHU Bicêtre, Hôpitaux Universitaires Paris Sud, Le Kremlin-Bicêtre.
  • Denis CV; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Bryckaert M; AP-HP, Department of Biological Hematology, Hôpital Necker, Paris.
  • de Lonlay P; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Lavenu-Bombled C; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
  • Melki J; AP-HP, Reference Center of Inherited Metabolic Diseases, Hôpital Necker, Université Paris Descartes.
  • Borgel D; HITh, UMR_S 1176, INSERM Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre cedex.
Haematologica ; 103(12): e613-e617, 2018 12.
Article in En | MEDLINE | ID: mdl-30115659
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Platelets / Megakaryocytes / Nucleotide Transport Proteins / Mutation Limits: Adolescent / Female / Humans / Male Language: En Journal: Haematologica Year: 2018 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Platelets / Megakaryocytes / Nucleotide Transport Proteins / Mutation Limits: Adolescent / Female / Humans / Male Language: En Journal: Haematologica Year: 2018 Document type: Article