Article
Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis.
Molecular and cellular probes - 1 Dec 1994
Kotze M J, Langenhoven E, Peeters A V, Theart L, Oosthuizen C J
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a dominantly-inherited genetic disorder causing primary hypercholesterolemia and premature coronary heart disease. To date, only two mutations causing FDB have been identified. A rapid non-radioactive technique is described to detect both disease-r...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- Coronary Disease
- Genes, Dominant
- Genetic Carrier Screening
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Pedigree
- Polymerase Chain Reaction
- Receptors, LDL