Article
Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
Pediatrics - 1 Aug 1995
Assouline L, Levy E, Feoli-Fonseca J C, Godbout C, Lambert M
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is a dominantly-inherited disorder attributable to a defect in the low-density lipoprotein (LDL) receptor gene. Five mutations at this locus have been identified in French-Canadians. In children, it may be difficult to clinically distinguish FH from...
Topics
- Adolescent
- Apolipoprotein A-I
- Apolipoproteins B
- Child
- Child, Preschool
- Cholesterol
- Cholesterol, HDL
- Cholesterol, LDL
- Chromosome Mapping
- Female
- Gene Deletion
- Genes, Dominant
- Genetic Variation
- Heterozygote
- Humans
- Hyperlipidemias
- Hyperlipoproteinemia Type II
- Lipids