Article
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia.
Lancet (London, England) - 22 May 1993
Moorjani S, Roy M, Torres A, Bétard C, Gagné C, Lambert M, Brun D, Davignon J, Lupien P
Abstract excerpt
Variation in plasma-cholesterol concentration and the expression of coronary heart disease in patients with homozygous familial hypercholesterolaemia (FH) is well documented, but the underlying reasons for variation are not clearly defined. Because FH is caused by mutations at the low-density-lip...
Topics
- Adolescent
- Adult
- Child
- Cholesterol
- Coronary Disease
- Exons
- Female
- Gene Deletion
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Lipoproteins, LDL
- Male
- Mutation
- Promoter Regions, Genetic