Article
Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
The Journal of clinical investigation - 1 Aug 1991
Soutar A K, McCarthy S N, Seed M, Knight B L
Abstract excerpt
In a large kindred of 66 individuals, 22 were identified as heterozygous and 3 as homozygous for a mutation (pro664----leu) in the LDL-receptor gene that gives rise to familial hypercholesterolaemia (FH). All the heterozygotes had a raised level of plasma total cholesterol and low density lipoprotein cholesterol, but were remarkably free from premature coronary disease. Determination of apolipoprotein(a) (apo(a))...
Topics
- Adolescent
- Adult
- Apolipoproteins
- Base Sequence
- Child
- Child, Preschool
- Electrophoresis, Polyacrylamide Gel
- Female
- Heterozygote
- Humans