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.
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Innerarity TL et al. (1987) Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. |
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Higgins MJ et al. (1975) A new type of familial hypercholesterolaemia. |
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OMIM.ORG article Omim 144010 |