Article
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.
European journal of clinical investigation - 1 Sept 1998
Ekström U, Abrahamson M, Wallmark A, Florén C H, Nilsson-Ehle P
Abstract excerpt
BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a populatio...
Topics
- Adult
- Anticholesteremic Agents
- DNA Mutational Analysis
- DNA Primers
- Female
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Male
- Middle Aged
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Prognosis
- Receptors, LDL
- Sweden