Article
Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.
Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 1994
Sun X M, Patel D D, Webb J C, Knight B L, Fan L M, Cai H J, Soutar A K
Abstract excerpt
Familial hypercholesterolemia (FH), caused by many different mutations in the low-density lipoprotein (LDL)-receptor gene, invariably leads to severe premature coronary heart disease (CHD) in homozygous individuals. Heterozygous FH patients are less severely affected but are still at increased ri...
Topics
- Adolescent
- Adult
- Base Sequence
- Binding Sites
- Blotting, Southern
- Child
- China
- Codon
- Coronary Disease
- Female
- Gene Deletion
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation