Article
A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 1995
Takata K, Saku K, Ohta T, Takata M, Bai H, Jimi S, Liu R, Sato H, Kajiyama G, Arakawa K
Abstract excerpt
We report a 39-year-old Japanese man with HDL and apoA-I deficiency as well as data from members of his family. Corneal opacity and a stomatocyte were found but not tonsillar hypertrophy, xanthomas, or splenomegaly. His serum HDL cholesterol, apoA-I, apoA-II, and LDL cholesterol levels were t mg/...
Topics
- Adolescent
- Adult
- Aged
- Apolipoprotein A-I
- Base Sequence
- Child
- Codon
- Coronary Disease
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Restriction Mapping
- Sequence Analysis