Article
Familial defective apo B-100, characterization of an Italian family.
European journal of clinical investigation - 1 Aug 1991
Corsini A, McCarthy B J, Granata A, Soria L F, Fantappiè S, Bernini, Romano C, Romano L, Fumagalli R, Catapano A L
Abstract excerpt
Familial defective apolipoprotein (apo) B-100 is a genetic disorder presenting with hypercholesterolaemia and abnormal low-density lipoprotein (LDL) that binds poorly to LDL receptors. This disease appears to be caused by a mutation in the apo B-100 gene. In the present study thirteen members of...
Topics
- Adolescent
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- DNA
- DNA Probes
- Humans
- Hyperlipoproteinemia Type II
- Lipoproteins, LDL
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, LDL