Article
Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.
Klinische Wochenschrift - 3 May 1991
Rauh G, Schuster H, Fischer J, Keller C, Wolfram G, Zöllner N
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder, which leads to increased serum levels of low density lipoprotein (LDL) cholesterol with reduced affinity for the LDL receptor. This genetic disorder is characterized by defective binding...
Topics
- Adolescent
- Adult
- Aged
- Apolipoprotein B-100
- Apolipoproteins B
- Arginine
- Base Sequence
- Child
- DNA, Circular
- Female
- Glutamine
- Heterozygote
- Humans
- Hydroxymethylglutaryl CoA Reductases
- Hyperlipoproteinemia Type II
- Lipid Metabolism, Inborn Errors
- Male
- Middle Aged