Article
Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.
Biochemical and biophysical research communications - 31 Jul 1991
Maeda E, Naka Y, Matozaki T, Sakuma M, Akanuma Y, Yoshino G, Kasuga M
Abstract excerpt
The plasma enzyme, human lecithin-cholesterol acyltransferase (LCAT) is responsible for the majority of cholesterol ester formation in human plasma and is a key enzyme of the reverse transport of cholesterol from peripheral tissue to the liver. We sequenced genomic DNA of the LCAT gene from a Jap...
Topics
- Base Sequence
- DNA
- Exons
- Female
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency
- Leukocytes
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Phosphatidylcholine-Sterol O-Acyltransferase
- Polymerase Chain Reaction