Article
The role of genetics in the diagnosis and treatment of haemorrhagic diathesis: a historical perspective.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2022
Fernández María Fernanda López
Abstract excerpt
The rapid development of genetic studies, not only in haemophilia but also in other congenital coagulopathies and platelet-related alterations, has been made possible by massive sequencing (e.g. next-generation sequencing or NGS), which allows a rapid and automatic analysis of the whole gene, simultaneous study of several genes and multiple individuals, detection of genetic variants and the possibility to create...
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