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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

11 Sept 2020

Abstract excerpt

Homozygous familial hypercholesterolaemia (HoFH) and compound heterozygous FH (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other FH-related genes. HoFH and cHeFH are characterized by severely elevated low-density lipoprotein-cholesterol (LDL-C), frequently leading to early cardiovascular disease. We investigated the genetic and clinical characteristics of HoFH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33093846
DOI: 10.3389/fgene.2020.572176

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