Article
Unexpected consequences of deletion of the first two repeats of the ligand-binding domain from the low density lipoprotein receptor. Evidence from a human mutation.
The Journal of biological chemistry - 20 Oct 1995
Sass C, Giroux L M, Lussier-Cacan S, Davignon J, Minnich A
Abstract excerpt
Heterozygosity for a 5-kilobase (kb) deletion of the first two ligand-binding repeats (exons 2 and 3) of the low density lipoprotein (LDL) receptor (R) gene (LDL-R delta 5kb) confers familial hypercholesterolemia (FH). The FH phenotype is unexpected based on previous site-directed mutagenesis sho...
Topics
- Base Sequence
- Cells, Cultured
- Exons
- Gene Deletion
- Humans
- Immunoblotting
- Lipoproteins, LDL
- Lipoproteins, VLDL
- Molecular Sequence Data
- Mutation
- RNA, Messenger
- Receptors, LDL