Publication | Closed Access

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation

Lipid DisorderHomozygous Familial HypercholesterolemiaGenetic DisorderGeneticsInherited Metabolic DiseaseGain-of-function MutationHuman PolymorphismPathologyHyperlipidemiaMolecular GeneticsPhenotypic FeaturesMedicineAtherosclerosisCardiovascular GeneticsClinical Genetics