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Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

Lipid DisorderGenetic DisorderFamilial HypercholesterolaemiaGeneticsInherited Metabolic DiseaseGenetic DefectsHyperlipidemiaDyslipidemiaMedicineLdl-receptor GeneEpidemiology