Article
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
European journal of human genetics : EJHG - 1 Jan 2000
Dawson P A, Cox A J, Emmerson B T, Dudman N P, Kraus J P, Gordon R B
Abstract excerpt
Homocystinuria, due to a deficiency of the enzyme cystathionine beta-synthase (CBS), is an inborn error of sulphur-amino acid metabolism. This is an autosomal recessive disease which results in hyperhomocysteinaemia and a wide range of clinical features, including optic lens dislocation, mental r...
Topics
- Adolescent
- Blotting, Western
- Child
- Cystathionine beta-Synthase
- DNA Mutational Analysis
- Female
- Homocysteine
- Homocystinuria
- Humans
- Male
- Middle Aged
- Mutation