Art

J-GLOBAL ID：201702214055333237   Reference number：17A1970906

Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype

Bernard-Soulier症候群患者と出血性表現型の異なる重症度【Powered by NICT】

Author (8)： Boeckelmann D (Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany) ,  Hengartner H (Department of Pediatrics, Division of Pediatric Hematology and Oncology, Ostschweizer Kinderspital, Switzerland) ,  Greinacher A (Institute for Immunology and Transfusion Medicine, University Medical Center, Greifswald, Germany) ,  Nowak-Gottl U (Institute of Clinical Chemistry, Thrombosis & Hemostasis Treatment Center, University Hospital Schleswig-Holstein, Campus Kiel & Lubbock, Germany) ,  Sachs UJ (Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany) ,  Peter K (Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany) ,  Sandrock-Lang K (Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany) ,  Zieger B (Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany)
Material： Blood Cells, Molecules, & Diseases  (BCMD)
Volume： 67  Page： 69-74  Publication year： 2017 
JST Material Number： W0878A  ISSN： 1079-9796  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Bernard-Soulier syndrome is a ...

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Thesaurus term： pathogenicity ,  Genotype ,  *Hemorrhage ,  Thrombocytopenia ,  *patient ,  *Phenotype ,  Europe ,  Heredity ,  thrombocyte ,  disease gene ,  autosomal recessive inheritance ,  Genetic Variation ,  antibiotics ,  antibacterial drug ,  antimicrobial drug ,  drug
Semi thesaurus term： variation(biology) ,  ristocetin ,  巨大血小板 ,  *Bernard-Soulier症候群 , 【Automatic Indexing@JST】

Author keywords (4)： Bernard-Soulier syndrome ,  Bleeding phenotype ,  GP9 European founder mutation ,  GP1BB mutation

JST classification (2)： Hematologic diseases  (GK03000F) ,  Hematologic diagnosis  (GK02000Y)

Terms in the title (5)： Bernard-Soulier症候群 ,  患者 ,  出血 ,  表現型 ,  重症度