Article
Screening for mutations in the exon 26 of the apolipoprotein B gene in hypercholesterolemic Finnish families by the single-strand conformation polymorphism method.
Human mutation - 1 Jan 1994
Ilmonen M, Heliö T, Ebeling T, Pyörälä K, Uusitupa M, Palotie A, Tikkanen M J
Abstract excerpt
To date, the only known apolipoprotein B (apo B) mutation causing hypercholesterolemia is the apo B 3500 Arg-->Gln or the familial defective apo B (FDB) mutation. This mutation has not been detected in the Finnish population. We have set up a systematic single-strand conformation polymorphism (SSCP) analysis-based screening method to search for other mutations in the exon 26 of the apo B gene in 21 Finnish...
Topics
- Apolipoproteins B
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Finland
- Genetic Variation
- Humans
- Hyperlipoproteinemia Type II
- Male