A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient - Juhász, Lilla; Balogh, István; Madar, László; Kovács, Beáta; Harangi, Mariann (Curēus (Palo Alto, CA), 2020)
Keywords: Cardiology; Endocrinology/Diabetes/Metabolism; Internal Medicine; phenotype; autosomal dominant hypercholesterolaemia; familial hypercholesterolaemia; double heterozygous