Article
ApoC-IIParis2: a premature termination mutation in the signal peptide of apoC-II resulting in the familial chylomicronemia syndrome.
Journal of lipid research - 1 Mar 1992
Parrott C L, Alsayed N, Rebourcet R, Santamarina-Fojo S
Abstract excerpt
The chemical mismatch method has been utilized to screen for mutations in the apoC-II gene of a patient with familial chylomicronemia and apoC-II deficiency. Cleavage of heteroduplexes formed between normal and patient DNA strands with hydroxylamine and osmium tetroxide readily localized a mutati...
Topics
- Amino Acid Sequence
- Apolipoprotein C-II
- Apolipoproteins C
- Base Sequence
- Child
- Female
- Frameshift Mutation
- Humans
- Hyperlipoproteinemia Type I
- Molecular Sequence Data
- Mutation
- Paris
- Protein Sorting Signals
- Restriction Mapping
- Terminator Regions, Genetic