Article
Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.
Clinical genetics - 1 Apr 1996
Cenarro A, Jensen H K, Civeira F, Casao E, Ferrando J, González-Bonillo J, Pocoví M, Gregersen N
Abstract excerpt
In our investigation of the LDL receptor gene in 30 Spanish patients, who were clinically diagnosed as heterozygous FH and were unrelated, we have applied single strand conformation polymorphism (SSCP) analysis and solid-phase sequencing. We identified two novel pathogenic mutations accounting fo...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Deoxyribonucleases, Type II Site-Specific
- Female
- Haplotypes
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL