Autosomal dominant hypercholesterolemia 2
Autosomal dominant hypercholesterolemia 2 is caused by mutations of the apolipoprotein B gene, the ligand of the LDL receptor. Two mutated allele result in an extreme hypercholesterolemia.
Innerarity TL et al. (1987) Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.[^]
Goldstein JL et al. (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.[^]
Higgins MJ et al. (1975) A new type of familial hypercholesterolaemia.[^]