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Article

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

Human molecular genetics - 1 Jul 1995

Kruger W D, Cox D R

Abstract excerpt

Mutations in the human cystathionine beta-synthase (CBS) gene are known to cause homocystinuria and may also be a significant risk factor for premature atherosclerosis. We have previously shown that the human CBS protein can substitute for the endogenous yeast CBS protein in Saccharomyces cerevisiae. We now show that expression of three different CBS mutants known to be associated with reduced enzyme activity in...

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Identifiers

PMID: 8528202
DOI: 10.1093/hmg/4.7.1155

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.PMID 8528202Read ↗

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Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.Semantic proximity Read ↗

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