Article
A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.
Journal of lipid research - 1 Nov 1994
Takagi A, Ikeda Y, Mori A, Tsutsumi Z, Oida K, Nakai T, Yamamoto A
Abstract excerpt
We investigated measures for identification of heterozygous lipoprotein lipase (LPL) deficiency in unrelated subjects with primary type IV hyperlipoproteinemia in order to acquire a helpful clue for understanding the correlation between hypertriglyceridemia and the status of being a heterozygous...
Topics
- Adult
- Aged
- Alleles
- Base Sequence
- DNA
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Female
- Haplotypes
- Heterozygote
- Humans
- Hyperlipoproteinemia Type IV
- Japan
- Lipoprotein Lipase
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation