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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak, Jakub; Kozubík, Katerina Stano; Radová, Lenka; Pesová, Michaela; Pál, Karol; Réblová, Kamila; Stehlíková, Olga; Smejkal, Petr; Zavrelová, Jirina; Pacejka, Milan; Mayer, Jirí; Pospísilová, Sárka; Doubek, Michael.
Afiliação
  • Trizuljak J; a Department of Internal Medicine- Hematology and Oncology, University Hospital Brno and Faculty of Medicine , Masaryk University , Brno , Czech Republic.
  • Kozubík KS; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Radová L; a Department of Internal Medicine- Hematology and Oncology, University Hospital Brno and Faculty of Medicine , Masaryk University , Brno , Czech Republic.
  • Pesová M; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Pál K; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Réblová K; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Stehlíková O; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Smejkal P; b Central European Institute of Technology , Masaryk University , Brno , Czech Republic.
  • Zavrelová J; a Department of Internal Medicine- Hematology and Oncology, University Hospital Brno and Faculty of Medicine , Masaryk University , Brno , Czech Republic.
  • Pacejka M; c Department of Clinical Hematology , University Hospital Brno , Brno , Czech Republic.
  • Mayer J; d Department of Laboratory Methods, Faculty of Medicine , Masaryk University , Brno , Czech Republic.
  • Pospísilová S; c Department of Clinical Hematology , University Hospital Brno , Brno , Czech Republic.
  • Doubek M; d Department of Laboratory Methods, Faculty of Medicine , Masaryk University , Brno , Czech Republic.
Platelets ; 29(8): 827-833, 2018 Dec.
Article em En | MEDLINE | ID: mdl-30332551
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bernard-Soulier / Mutação Puntual / Complexo Glicoproteico GPIb-IX de Plaquetas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bernard-Soulier / Mutação Puntual / Complexo Glicoproteico GPIb-IX de Plaquetas Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article