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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Revel-Vilk, Shoshana; Shai, Ela; Turro, Ernest; Jahshan, Nivin; Hi-Am, Esti; Spectre, Galia; Daum, Hagit; Kalish, Yossef; Althaus, Karina; Greinacher, Andreas; Kaplinsky, Chaim; Izraeli, Shai; Mapeta, Rutendo; Deevi, Sri V V; Jarocha, Danuta; Ouwehand, Willem H; Downes, Kate; Poncz, Mortimer; Varon, David; Lambert, Michele P.
Afiliação
  • Revel-Vilk S; Pediatric Hematology/Oncology Unit, Department of Pediatrics, Shaare-Zedek Medical Center, and.
  • Shai E; Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Turro E; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Jahshan N; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Hi-Am E; National Health Service Blood and Transplant, Cambridge, United Kingdom.
  • Spectre G; Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Daum H; Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Kalish Y; Department of Hematology, Belinson Hospital, Tel Aviv University, Tel Aviv, Israel.
  • Althaus K; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Greinacher A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Kaplinsky C; Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Izraeli S; Department of Immunology and Transfusion Medicine University Medicine Greifswald, Greifswald, Germany.
  • Mapeta R; Department of Immunology and Transfusion Medicine University Medicine Greifswald, Greifswald, Germany.
  • Deevi SVV; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Jarocha D; Department of Pediatric Hematology/Oncology and.
  • Ouwehand WH; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Downes K; The Genes, Development and Environment Research Institute, Tel Aviv University and Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Poncz M; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Varon D; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Lambert MP; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
Blood ; 132(17): 1851-1854, 2018 10 25.
Article em En | MEDLINE | ID: mdl-30171045

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Complexos Multienzimáticos Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia / Complexos Multienzimáticos Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Blood Ano de publicação: 2018 Tipo de documento: Article