Article
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Human molecular genetics - 1 Dec 1997
Kim C E, Gallagher P M, Guttormsen A B, Refsum H, Ueland P M, Ose L, Folling I, Whitehead A S, Tsai M Y, Kruger W D
Abstract excerpt
Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder which results in extremely elevated levels of total plasma homocysteine (tHcy) and high risk of thromboembolic events. About half of all patients diagnosed with CBS deficiency respond to pyridoxine treatment with a significant lowering of tHcy levels. We examined 12 CBS-deficient patients from 10 Norwegian families for mutations in...
Topics
- Adolescent
- Adult
- Alleles
- Child
- Cloning, Molecular
- Cystathionine beta-Synthase
- DNA Mutational Analysis
- Exons
- Female
- Genes, Recessive
- Genotype
- Homocystinuria
- Humans
- Introns