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

doi:10.1093/hmg/4.7.1155

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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 cerevis...

Topics

Alleles
Base Sequence
Cells, Cultured
Cystathionine beta-Synthase
DNA Mutational Analysis
Female
Homocystinuria
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Saccharomyces cerevisiae

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