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Article

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.

Arteriosclerosis, thrombosis, and vascular biology - 1 May 2000

Gaustadnes M, Rüdiger N, Rasmussen K, Ingerslev J

Abstract excerpt

Severe hyperhomocysteinemia due to cystathionine beta-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, approximately 50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. These patients, who displayed no other known thrombophilic...

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Source

Identifiers

PMID: 10807759
DOI: 10.1161/01.atv.20.5.1392

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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