| Autor: |
Zolkova J, Sokol J, Simurda T, Vadelova L, Snahnicanova Z, Loderer D, Dobrotova M, Skornova I, Lasabova Z, Kubisz P, Stasko J |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Acta Medica Martiniana, Vol 19, Iss 1, Pp 5-11 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1338-4139 |
| DOI: |
10.2478/acm-2019-0001 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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