Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia.

Abstract excerpt

To evaluate mutations in the low density lipoprotein receptor (LDL-R) gene in moderate primary hypercholesterolemia, a combination of polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP) and direct sequencing, was used to screen the LDL-R gene in a selected population o...

Topics

• Alleles
• Amino Acid Sequence
• Animals
• Exons
• Humans
• Hypercholesterolemia
• Molecular Sequence Data
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Receptors, LDL
• Sequence Alignment
• Sequence Analysis, DNA