Article
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
Journal of medical genetics - 1 Dec 1991
Schuster H, Rauh G, Gerl C, Keller C, Wolfram G, Zöllner N
Abstract excerpt
In the majority of patients, familial hypercholesterolaemia (FH) is caused by different mutations affecting the well defined low density lipoprotein receptor (LDLR) gene. However, 3% of patients in Munich with a clinical diagnosis of FH have a particular mutation in the apolipoprotein B gene causing familial defective apolipoprotein B-100 (FDB). To date none of the LDLR mutations causing FH in German patients has...
Topics
- Adult
- Alleles
- Child
- Cholesterol
- Evaluation Studies as Topic
- Female
- Gene Frequency
- Genetic Carrier Screening
- Germany
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II