- •LDLR and PCSK9 variants detected in Japanese heterozygous FH were updated.
- •Clinical significance of LDLR and PCSK9 variants were annotated in heterozygous FH.
- •LDLR and PCSK9 pathogenic variants were found in 46% and 7.8% of FH patients, respectively.
- •The proportion of LDLR pathogenic variants decreased with increased age of CAD onset.
Background and aims
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