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 possibi...
Topics
- Alleles
- Arterial Occlusive Diseases
- Base Sequence
- Blotting, Western
- Cell Line
- Cloning, Molecular
- Cystathionine beta-Synthase
- DNA, Complementary
- Enzyme Activation
- Female
- Homocysteine
- Humans
- Molecular Sequence Data
- Polymorphism, Genetic
- S-Adenosylmethionine