Article
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 1997
Sun X M, Patel D D, Knight B L, Soutar A K
Abstract excerpt
In this study we have analyzed the genetic defect in 42 patients with a diagnosis of heterozygous familial hypercholesterolemia (FH) by Southern blotting, SSCP, and sequencing of PCR-amplified fragments of genomic DNA or sequencing of RT-PCR products from mRNA in cultured cells. The apoB Arg3500G...
Topics
- Adult
- Apolipoproteins B
- Cells, Cultured
- Chromosomes, Human, Pair 19
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Female
- Genetic Heterogeneity
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Linkage Disequilibrium
- Lipoproteins, LDL
- Lymphocytes