Article
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
Clinical genetics - 1 Jul 1998
Nissen H, Lestavel S, Hansen T S, Luc G, Bruckert E, Clavey V
Abstract excerpt
Mutations in the LDL receptor (LDLR) or the apolipoprotein B-100 genes causing familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB), two of the most frequent inherited diseases, are the underlying genetic defects in a small proportion of patients suffering from pre...
Topics
- Apolipoprotein B-100
- Apolipoproteins B
- DNA Mutational Analysis
- Genetic Testing
- HeLa Cells
- Humans
- Hyperlipoproteinemia Type II
- Mutation
- Receptors, LDL