Article
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia.
Clinical chemistry - 1 Jul 1998
Nauck M S, Nissen H, Hoffmann M M, Herwig J, Pullinger C R, Averna M, Geisel J, Wieland H, März W
Abstract excerpt
Familial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junct...
Topics
- Alternative Splicing
- Apolipoprotein C-II
- Apolipoproteins C
- Child, Preschool
- Chylomicrons
- Electrophoresis, Polyacrylamide Gel
- Humans
- Hyperlipoproteinemia Type IV
- Introns
- Male
- Mutation