Article
The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jun 1999
Alberto F L, Figueiredo M S, Zago M A, Araújo A G, Dos-Santos J E
Abstract excerpt
Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene,...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Brazil
- Child
- Child, Preschool
- DNA
- Female
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Lebanon
- Male
- Middle Aged
- Mutation
- Receptors, LDL