Article
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 May 1992
Koivisto P V, Koivisto U M, Miettinen T A, Kontula K
Abstract excerpt
The concordance of clinical and molecular genetic diagnoses of heterozygous familial hypercholesterolemia (FH) was studied in 65 subjects (10 propositi and 55 first-degree relatives) from 10 families with FH. Nine propositi were carriers of the FH-Helsinki deletion of the low density lipoprotein (LDL) receptor gene, prevalent in the Finnish population, while a new deletion, extending from intron 14 to intron 15...
Topics
- Adolescent
- Adult
- Aged
- Anticholesteremic Agents
- Child
- Child, Preschool
- Cholesterol, LDL
- Coronary Disease
- DNA
- Female
- Heterozygote