Article
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.
Human mutation - 1 Jan 1996
Benlian P, de Gennes J L, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde J P, Federspiel M C, Bertrand V, Bernard C, Bereziat G
Abstract excerpt
Variability in the expression of monogenic lipid disorders may be observed in patients carrying the same DNA mutation, suggesting possible genetic or environmental interactions. Our objective was to investigate the genotype-phenotype relationships in two unrelated French patients with an aggravat...
Topics
- Adult
- Apolipoprotein B-100
- Apolipoproteins B
- Base Sequence
- Child
- Female
- Genotype
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Phenotype