Article
Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis.
Clinical chemistry - 1 Mar 1995
Nissen H, Hansen P S, Faergeman O, Hørder M
Abstract excerpt
Familial defective apolipoprotein B (FDB) is a clinical condition resembling familial hypercholesterolemia. The underlying genetic defects are mutations in the apolipoprotein B-100 (apo B-100) gene. Two mutations (Arg3500 --> Gln and Arg3531 --> Cys) are known to date. We designed a denaturing gr...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- Codon
- Denmark
- Electrophoresis, Polyacrylamide Gel
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Denaturation