Article
Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
Journal of lipid research - 1 Dec 1992
Reina M, Brunzell J D, Deeb S S
Abstract excerpt
The molecular basis of familial chylomicronemia (type I hyperlipoproteinemia), a rare autosomal recessive trait, was investigated in six unrelated individuals (five of Spanish descent and one of Northern European extraction). DNA amplification by polymerase chain reaction (PCR) followed by single...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Apolipoprotein C-II
- Apolipoproteins C
- Base Sequence
- Child
- Child, Preschool
- Chylomicrons
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Models, Molecular