Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava
The findings support the association between c.391C > T in SERPINC1, thrombophilia, and atresia of the IVC system and indicate that even heterozygosity for c.391C > T may contribute to such anomalies. ATD detection was hampered by the varying sensitivity of methods used for AT activity measurement.
Authors
- Rune Andersen (ORCID: https://orcid.org/0000-0002-8228-1672)
- Carola E. Henriksson (ORCID: https://orcid.org/0000-0003-3205-8808)
- Beate Rikken Lindberg (ORCID: https://orcid.org/0000-0003-0956-8826)
- Benedicte Paus (ORCID: https://orcid.org/0000-0003-2360-6163)
- Nina Iversen (ORCID: https://orcid.org/0000-0001-5800-6497)
- Marit Sletten
- Marie Skogstad Le
Institutions
- Oslo University Hospital (NO)
- University of Oslo (NO)
Publication Details
- Journal
- Thrombosis Journal
- Published
- 2024-08-11
- DOI
- https://doi.org/10.1186/s12959-024-00644-1
- Citations
- 1
- Primary Topic
- Vascular anomalies and interventions
- Type
- article
- Field-Weighted Citation Impact
- 0.57
Funders
- Universitetet i Oslo