Article
Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity.
Clinical biochemistry - 1 Jul 2001
Rosset J, Wang J, Wolfe B M, Dolphin P J, Hegele R A
Abstract excerpt
OBJECTIVES: A 69 yr old male was referred for assessment of a very low plasma HDL cholesterol and apolipoprotein AI concentration. At age 65, he had undergone triple vessel coronary bypass graft surgery. He had a strong family history of early coronary heart disease. We analyzed the molecular basis of his clinical and biochemical abnormalities. DESIGN AND METHODS: We used DNA sequencing to determine whether...
Topics
- Aged
- Amino Acid Substitution
- Apolipoprotein A-I
- Arteriosclerosis
- Cholesterol, HDL
- Electrophoresis, Polyacrylamide Gel
- Heterozygote
- Humans
- Male
- Mutation
- Phosphatidylcholine-Sterol O-Acyltransferase
- Restriction Mapping
- Sequence Analysis, DNA
- Tangier Disease