Article
A robust strategy for screening and confirmation of familial defective apolipoprotein B-100.
Clinical chemistry - 1 Jan 1993
Mamotte C D, van Bockxmeer F M
Abstract excerpt
The diagnosis of familial defective apolipoprotein B-100 (FDB) has been facilitated by the use of mutagenic polymerase chain reaction (PCR) primers to introduce restriction sites at the FDB gene locus. We describe a two-test strategy for diagnosing FDB that overcomes the potential for error in si...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- DNA
- DNA Restriction Enzymes
- Deoxyribonucleases, Type II Site-Specific
- Female
- Heterozygote
- Homozygote
- Humans
- Hypercholesterolemia
- Middle Aged
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction