Table 9.

Familial Hypercholesterolemia: Mechanism of Disease Causation

Gene 1Mechanism of Disease Causation
APOB Loss-of-function variants that typically impair LDL-C binding to the LDLR
LDLR Loss of function
LDLRAP1 Loss of function; however, may change over time, as data on variants in this gene are currently limited.
PCSK9 Gain of function
1.

Genes from Table 1 in alphabetic order

From: Familial Hypercholesterolemia

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