Article
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.
European journal of medical research - 24 May 1996
Brugger D, Schuster H, Zöllner N
Abstract excerpt
Familial hypercholesterolemia (FH) is characterized by an increased level of LDL cholesterol, tendon xanthomas and an elevated risk of premature coronary artery disease (CAD). FH is caused by different mutations in the low density lipoprotein receptor (LDLR) gene or by a G to A mutation in exon 2...
Topics
- Angioplasty
- Apolipoprotein B-100
- Apolipoproteins B
- Arteriosclerosis
- Carotid Artery Diseases
- Cholesterol
- Coronary Artery Bypass
- Coronary Disease
- Female
- Genetic Carrier Screening
- Homozygote
- Humans
- Hypercholesterolemia
- Male
- Myocardial Infarction
- Phenotype
- Point Mutation
- Receptors, LDL