Article
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1991
Matsunaga T, Hiasa Y, Yanagi H, Maeda T, Hattori N, Yamakawa K, Yamanouchi Y, Tanaka I, Obara T, Hamaguchi H
Abstract excerpt
The molecular genetic defect of a female patient with apolipoprotein A-I (apoA-I) deficiency and premature atherosclerosis was examined. Her parents were first cousins. Her plasma density fraction from 1.063 to 1.21 g/ml contained no apoA-I on SDS/PAGE and no measurable high density lipoprotein c...
Topics
- Adult
- Amino Acid Sequence
- Apolipoprotein A-I
- Apolipoproteins A
- Arteriosclerosis
- Base Sequence
- Blotting, Southern
- Cloning, Molecular
- Codon
- Coronary Angiography
- DNA
- Female
- Genes
- Humans
- Lipoproteins, HDL