Johnny Chahine Sarah Kreykes Jeremy R Van't Hof Daniel Duprez Prabhjot Nijjar
10.2147/VHRM.S314704
Vasc Health Risk Manag
2021 Jul 21;17:415-419.
lebanese allele familial hypercholesterolemia familial hyperlipidemia heterozygous
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/34321884/
Cholesterol, LDL / blood Codon, Nonsense Hyperlipoproteinemia Type II / genetics Receptors, LDL / genetics Siblings
Cholesterol, LDL / blood Codon, Nonsense Hyperlipoproteinemia Type II / genetics Receptors, LDL / genetics Siblings Case Reports Female Genetic Predisposition to Disease Heredity Heterozygote Humans Hyperlipoproteinemia Type II / blood Hyperlipoproteinemia Type II / diagnosis Middle Aged Pedigree Phenotype Severity of Illness Index Cholesterol, LDL Codon, Nonsense LDLR protein, human Receptors, LDL
PMC8312315
34321884
Variable and Severe Phenotypic Expression of the "Lebanese Allele" in Two Sisters with Familial Hypercholesterolemia
2021