Article
Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes.
Clinical genetics - 1 Feb 2000
Raungaard B, Jensen H K, Brorholt-Petersen J U, Heath F, Faergeman O
Abstract excerpt
We report a functional characterization of the W23X and W66G low density lipoprotein (LDL) receptor gene mutations. The authors used two-color fluorescence flow cytometry to measure LDL receptor activity in stimulated T-lymphocytes, prepared from patients heterozygous for the W23X or W66G mutation, and compared the results with measurements of LDL receptor activity in stimulated T-lymphocytes prepared from...
Topics
- Adult
- Case-Control Studies
- Female
- Flow Cytometry
- Genetic Variation
- Humans
- Hyperlipoproteinemia Type II
- Leukocytes, Mononuclear
- Male
- Middle Aged
- Mutation