The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease
Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this g...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2019-04-01
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| Series: | Acta Medica Martiniana |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/acm-2019-0001 |
| _version_ | 1797778356978057216 |
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| author | Zolkova J Sokol J Simurda T Vadelova L Snahnicanova Z Loderer D Dobrotova M Skornova I Lasabova Z Kubisz P Stasko J |
| author_facet | Zolkova J Sokol J Simurda T Vadelova L Snahnicanova Z Loderer D Dobrotova M Skornova I Lasabova Z Kubisz P Stasko J |
| author_sort | Zolkova J |
| collection | DOAJ |
| description | Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder. |
| first_indexed | 2024-03-12T23:16:06Z |
| format | Article |
| id | doaj.art-1bf5280781834961a876bd964410519e |
| institution | Directory Open Access Journal |
| issn | 1338-4139 |
| language | English |
| last_indexed | 2024-03-12T23:16:06Z |
| publishDate | 2019-04-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Acta Medica Martiniana |
| spelling | doaj.art-1bf5280781834961a876bd964410519e2023-07-17T05:26:04ZengSciendoActa Medica Martiniana1338-41392019-04-0119151110.2478/acm-2019-0001acm-2019-0001The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand DiseaseZolkova J0Sokol J1Simurda T2Vadelova L3Snahnicanova Z4Loderer D5Dobrotova M6Skornova I7Lasabova Z8Kubisz P9Stasko J10Department of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDivision of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovak RepublicDivision of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDivision of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicDepartment of Hematology and Transfusiology, National Centre of Hemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovak RepublicGenetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large number of mutations leading to VWD have been described in this gene. Thanks to describing these mechanisms it is possible to understand the pathogenesis of the most common congenital bleeding disorder.https://doi.org/10.2478/acm-2019-0001von willebrand diseasevon willebrand factorgenetic testingnew generation sequencingmutation |
| spellingShingle | Zolkova J Sokol J Simurda T Vadelova L Snahnicanova Z Loderer D Dobrotova M Skornova I Lasabova Z Kubisz P Stasko J The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease Acta Medica Martiniana von willebrand disease von willebrand factor genetic testing new generation sequencing mutation |
| title | The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease |
| title_full | The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease |
| title_fullStr | The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease |
| title_full_unstemmed | The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease |
| title_short | The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease |
| title_sort | importance and complications of sequencing of von willebrand gene in von willebrand disease |
| topic | von willebrand disease von willebrand factor genetic testing new generation sequencing mutation |
| url | https://doi.org/10.2478/acm-2019-0001 |
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