Article
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Human molecular genetics - 1 Jul 1994
de Franchis R, Kozich V, McInnes R R, Kraus J P
Abstract excerpt
We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria. The phenotypic expression of the siblings differed even though their CBS genotypes we...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Child, Preschool
- Cystathionine beta-Synthase
- DNA Mutational Analysis
- Escherichia coli
- Female
- Fibroblasts
- Genotype
- Heterozygote
- Homocystinuria
- Humans
- Infant
- Male
- Molecular Sequence Data