Article
Genetic diagnosis with the denaturing gradient gel electrophoresis technique improves diagnostic precision in familial hypercholesterolemia.
Circulation - 15 Mar 1995
Nissen H, Hansen A B, Guldberg P, Petersen N E, Larsen M L, Haghfelt T, Kristiansen K, Hørder M
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder of lipid metabolism caused by mutations in the LDL receptor gene. FH is characterized clinically by elevated LDL cholesterol level and premature coronary disease. Diagnosing FH on clinical grounds may be di...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Blotting, Southern
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, LDL