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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)

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