Article
Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.
Human genetics - 1 May 1992
Reshef A, Meiner V, Dann E J, Granat M, Leitersdorf E
Abstract excerpt
Here, we report the prenatal diagnosis of familial hypercholesterolemia in a Christian-Arab family that carries the "Lebanese" mutation, a single base substitution that creates a HinfI restriction site, at the low density lipoprotein (LDL) receptor locus. Polymerase chain reaction amplification a...
Topics
- Base Sequence
- Deoxyribonucleases, Type II Site-Specific
- Female
- Fetal Diseases
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis
- Receptors, LDL