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Article

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

Human molecular genetics - 1 Apr 1995

Kozich V, Kraus E, de Franchis R, Fowler B, Boers G H, Graham I, Kraus J P

Abstract excerpt

Hyperhomocysteinemia occurs in approximately 30% of the patients with premature occlusive arterial disease (POAD). Some of these exhibit significantly reduced fibroblast cystathionine beta-synthase (CBS) activities, suggesting that they may be heterozygous for CBS deficiency. To test this possibility, we studied cDNA derived from four well characterized patients with POAD, exhibiting hyperhomocysteinemia and...

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Identifiers

PMID: 7633411
DOI: 10.1093/hmg/4.4.623

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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