Article
A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1991
Funke H, von Eckardstein A, Pritchard P H, Albers J J, Kastelein J J, Droste C, Assmann G
Abstract excerpt
Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. However, there is a heterogeneous group of rare familial disorders, characterized by severe high...
Topics
- Aged
- Amino Acid Sequence
- Apolipoproteins
- Base Sequence
- Cholesterol
- Eye Diseases
- Genes
- Genetic Carrier Screening
- Genotype
- Homozygote
- Humans
- Male
- Middle Aged
- Molecular Sequence Data