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Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
Levin, C; Koren, A; Pretorius, E; Rosenberg, N; Shenkman, B; Hauschner, H; Zalman, L; Khayat, M; Salama, I; Elpeleg, O; Shalev, S.
Affiliation
  • Levin C; Pediatric Hematology Unit and Pediatric Department B, Emek Medical Center, Afula, Israel.
  • Koren A; The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Pretorius E; Pediatric Hematology Unit and Pediatric Department B, Emek Medical Center, Afula, Israel.
  • Rosenberg N; The Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Shenkman B; Department of Anatomy, Faculty of Health Sciences, School of Medicine of the University of Pretoria, Gauteng, South Africa.
  • Hauschner H; Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Zalman L; Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Khayat M; Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Salama I; Hematology Laboratory, Emek Medical Center, Afula, Israel.
  • Elpeleg O; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Shalev S; Clalit Health Services, Afula, Israel.
J Thromb Haemost ; 13(7): 1285-92, 2015 Jul.
Article in En | MEDLINE | ID: mdl-25876182
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Blood Platelets / Codon, Nonsense / Adaptor Proteins, Signal Transducing / Hemorrhage / Hemostasis Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Thromb Haemost Year: 2015 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Blood Platelets / Codon, Nonsense / Adaptor Proteins, Signal Transducing / Hemorrhage / Hemostasis Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Thromb Haemost Year: 2015 Document type: Article