Article
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Human mutation - 1 Jan 1992
Kozich V, Kraus J P
Abstract excerpt
Deficiency of cystathionine beta-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals. Portions of patient cDNAs were amplified by PCR and used to replace the corre...
Topics
- Base Sequence
- Cloning, Molecular
- Cystathionine beta-Synthase
- DNA
- Escherichia coli
- Genetic Testing
- Homocystinuria
- Humans
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Plasmids
- RNA, Messenger
- Recombinant Proteins
- Restriction Mapping