CareLit Fachartikel

Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis

Li, X.; Zhu, J.; lv, F.; Ma, W.; Zhou, W.; Zhang, W. · Zeitschrift für Orthopädie und Unfallchirurgie · 2024 · Heft 06 · S. 472 bis 477

Dokument
615027
CareLit-ID
Jahr
2024
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Zeitschrift für Orthopädie und Unfallchirurgie
Autor:innen
Li, X.; Zhu, J.; lv, F.; Ma, W.; Zhou, W.; Zhang, W.
Ausgabe
Heft 06 / 2024
Jahrgang 44
Seiten
472 bis 477
Erschienen: 2024-12-01 00:00:00
ISSN
0720-9355;2567-5761

Zusammenfassung

AbstractVenous thromboembolism (VTE) represents a worldwide health challenge, impacting millions of people each year. The genesis of venous thrombosis is influenced in part by genetic components. Hereditary thrombosis is described as a genetically determined susceptibility to VTE. In the present study, a male patient was referred to our department presenting with multiple venous thrombosis events in different locations. Given a lack of identifiable risk factors, we aimed to investigate the possible genetic factor underlying venous thrombosis. Whole-exome sequencing was employed to examine genes linked to inherit…

Schlagworte

Thrombosis Venous Genetic Proband Impacting Hereditary Patient Sequencing Inherited Variants Digenic Inheritance Zeitschrift für Orthopädie und Unfallchirurgie