Article
A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.
Biochemical and biophysical research communications - 15 Jan 1992
Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz M C, Hashimoto H, Fukamachi I, Shirai K, Saito Y, Yoshida S
Abstract excerpt
Previously, we reported a case with type I hyperlipidemia due to a lipid interface recognition deficiency in lipoprotein lipase (LPL) (1). The LPL from postheparin plasma of this patient did not hydrolyze TritonX-100-triolein or very low density lipoprotein-triolein but did hydrolyze tributyrin a...
Topics
- Adipose Tissue
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA
- Female
- Genetic Carrier Screening
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Lymphocytes
- Molecular Sequence Data
- Molecular Weight