autosomal dominant hypercholesterolemia
MIM.143890
Etiology
autosomal dominant familial hypercholesterolaemia (FH)
- mutations in the low density lipoprotein (LDL)-receptor
- mutations in apolipoprotein B genes
- mutations in PCSK9, encoding a putative proprotein convertase (MIM.607786) in HCHOLA3 (MIM.603776)