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Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Zieger, Barbara; Boeckelmann, Doris; Anani, Waseem; Falet, Hervé; Zhu, Jieqing; Glonnegger, Hannah; Full, Hermann; Andresen, Felicia; Erlacher, Miriam; Lausch, Ekkehart; Fels, Salome; Strahm, Brigitte; Lang, Peter; Hoffmeister, Karin M.
Afiliação
  • Zieger B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Boeckelmann D; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Anani W; Translational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
  • Falet H; Translational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
  • Zhu J; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Wisconsin, United States.
  • Glonnegger H; Translational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
  • Full H; Department of Biochemistry, Medical College of Wisconsin, Wisconsin, United States.
  • Andresen F; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Erlacher M; Clinic for Pediatric and Adolescent Medicine, SLK-Kliniken Heilbronn, Heilbronn, Germany.
  • Lausch E; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fels S; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Strahm B; Pediatric Genetics Section, Department of Pediatrics, University of Freiburg, Freiburg, Germany.
  • Lang P; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Hoffmeister KM; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Thromb Haemost ; 122(7): 1139-1146, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35052006

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Miopatias Distais Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Thromb Haemost Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Miopatias Distais Tipo de estudo: Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Thromb Haemost Ano de publicação: 2022 Tipo de documento: Article