The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease

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...

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Bibliographic Details
Main Authors: Zolkova J, Sokol J, Simurda T, Vadelova L, Snahnicanova Z, Loderer D, Dobrotova M, Skornova I, Lasabova Z, Kubisz P, Stasko J
Format: Article
Language:English
Published: Sciendo 2019-04-01
Series:Acta Medica Martiniana
Subjects:
von willebrand disease
von willebrand factor
genetic testing
new generation sequencing
mutation
Online Access:https://doi.org/10.2478/acm-2019-0001

Internet

https://doi.org/10.2478/acm-2019-0001

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