Article
Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.
American journal of therapeutics - 1 Jan 2000
Arráiz Nailet, Bermúdez Valmore, Rondon Netxibeth, Reyes Francia, Borjas Lisbeth, Solís Ernesto, Mujica Endrina, Prieto Carem, Reyna Nadia, Velasco Manuel
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by increase in low-density lipoprotein (LDL) cholesterol levels and premature coronary artery disease. In Venezuela, the molecular basis of FH has not been characterized, thus, the aim of this study was to investigate mutations in the exon 4 of the LDLR (LDL-receptor) gene in 225 Venezuelan mixed race individuals (65...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- Apolipoprotein B-100
- Child
- Exons
- Female
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Polymerase Chain Reaction