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August 11, 2024Thrombosis JournalOpen Access

Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava

Nina Iversen Carola E. Henriksson Marit Sletten Marie Skogstad Le Beate Rikken Lindberg Rune Andersen Benedicte Paus

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Abstract

Atresia of the infrarenal inferior vena cava (IVC) is associated with thrombophilia and antithrombin (AT) deficiency (ATD) due to homozygosity for the so-called Budapest 3 variant, c.391C > T, in the gene, SERPINC1.

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Cite This Study

Iversen et al. (2024) studied this question.

synapsesocial.com/papers/68e5cb6bb6db643587561e4a https://doi.org/10.1186/s12959-024-00644-1

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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