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Article

Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.

European journal of human genetics : EJHG - 1 Jan 2003

Lievers Karin J A, Kluijtmans Leo A J, Heil Sandra G, Boers Godfried H J, Verhoef Petra, Den Heijer Martin, Trijbels Frans J M, Blom Henk J

Abstract excerpt

Hyperhomocysteinaemia is generally accepted as an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. The only way of homocysteine degradation is conversion to cysteine in the transsulfuration pathway in which the regulating step is catalysed by cystathionine beta-synthase (CBS). Mild impairment of CBS function could therefore affect homocysteine concentration, in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12529702
DOI: 10.1038/sj.ejhg.5200899

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.PMID 12529702Read ↗

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A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.Semantic proximity Read ↗

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