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Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).
Simurda, Tomas; Caccia, Sonia; Asselta, Rosanna; Zolkova, Jana; Stasko, Jan; Skornova, Ingrid; Snahnicanova, Zuzana; Loderer, Dusan; Lasabova, Zora; Kubisz, Peter.
Afiliación
  • Simurda T; National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia. tomas.simurda@uniba.sk.
  • Caccia S; Department of Biomedical and Clinical Sciences "L. Sacco", Università degli Studi di Milano, Milan, Italy.
  • Asselta R; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele and Humanitas Clinical and Research Center, IRCCS, Rozzano, Milan, Italy.
  • Zolkova J; National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.
  • Stasko J; National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.
  • Skornova I; National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.
  • Snahnicanova Z; Department of Molecular Biology, Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia.
  • Loderer D; Department of Molecular Biology, Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia.
  • Lasabova Z; Department of Molecular Biology, Biomedical Center Martin, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia.
  • Kubisz P; National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.
J Thromb Thrombolysis ; 50(1): 233-236, 2020 Jul.
Article en En | MEDLINE | ID: mdl-31712947

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 Problema de salud: 2_muertes_prematuras_enfermedades_notrasmisibles Asunto principal: Tromboelastografía / Pruebas de Coagulación Sanguínea / Fibrinógeno / Trombosis de la Vena / Afibrinogenemia Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Middle aged Idioma: En Revista: J Thromb Thrombolysis Asunto de la revista: ANGIOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Eslovaquia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 Problema de salud: 2_muertes_prematuras_enfermedades_notrasmisibles Asunto principal: Tromboelastografía / Pruebas de Coagulación Sanguínea / Fibrinógeno / Trombosis de la Vena / Afibrinogenemia Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Middle aged Idioma: En Revista: J Thromb Thrombolysis Asunto de la revista: ANGIOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Eslovaquia
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