Article
Correction of disease-causing CBS mutations in yeast.
Nature genetics - 1 May 1998
Shan X, Kruger W D
Abstract excerpt
Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma. The primary cause of mortality is thromboembolism induced by the excessive tHcy levels. Mild increases in tHcy levels ar...
Topics
- Cystathionine beta-Synthase
- Genetic Therapy
- Homocystinuria
- Humans
- Mutation
- Phenotype
- Saccharomyces cerevisiae