Article
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
American journal of human genetics - 1 Jul 1995
Shih V E, Fringer J M, Mandell R, Kraus J P, Berry G T, Heidenreich R A, Korson M S, Levy H L, Ramesh V
Abstract excerpt
Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. Patients responsive to pyridoxine usually have a milder clinical phenotype than do nonresponsive patients, and we studied the molecular pathology of this disorder in an attempt to understand the molecular basis of the clinical variation. We previously reported a T833C...
Topics
- Adult
- Base Sequence
- Cell Line
- Child
- Cystathionine beta-Synthase
- DNA Mutational Analysis
- Exons
- Female
- Homocystinuria
- Humans
- Male