Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia
- 1 March 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 91 (1) , 13-16
- https://doi.org/10.1007/bf00230214
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Enhanced Cholesteryl Ester Transfer Protein Activities and Abnormalities of High Density Lipoproteins in Familial HypercholesterolemiaHormone and Metabolic Research, 1992
- Serum lipoprotein lipid concentration and composition in homozygous and heterozygous patients with cholesteryl ester transfer protein deficiencyAtherosclerosis, 1991
- Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosaThe Lancet, 1991
- Plasma lipid transfer protein as a determinant of the atherogenicity of monkey plasma lipoproteins.Journal of Clinical Investigation, 1991
- Increased High-Density Lipoprotein Levels Caused by a Common Cholesteryl-Ester Transfer Protein Gene MutationNew England Journal of Medicine, 1990
- Organization of the human cholesteryl ester transfer protein geneBiochemistry, 1990
- Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteinsNature, 1989
- Modification of enzymatic-ally amplified DNA for the detection of point mutationsNucleic Acids Research, 1989
- Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemiaAtherosclerosis, 1985
- Blot hybridisation analysis of genomic DNA.Journal of Medical Genetics, 1984