TY - JOUR AU - Sanchez-Hernandez, Rosa M. AU - Civeira, Fernando AU - Stef, Marianne AU - Perez-Calahorra, Sofia AU - Almagro, Fatima AU - Plana, Nuria AU - Novoa, Francisco J. AU - Saenz-Aranzubia, Pedro AU - Mosquera, Daniel AU - Soler, Cristina AU - Fuentes, Francisco J. AU - Brito-Casillas, Yeray AU - Real, Jose T. AU - Blanco-Vaca, Francisco AU - Ascaso, Juan F. AU - Pocovi, Miguel PY - 2016 DO - 10.1161/CIRCGENETICS.116.001545 SN - 1942-325X UR - http://hdl.handle.net/10668/19085 T2 - Circulation-cardiovascular genetics AB - Background-Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is... LA - en PB - Lippincott Williams & Wilkins KW - Alleles KW - Hypercholesterolemia KW - Lipids KW - Mutation KW - Registries KW - Autosomal-dominant hypercholesterolemia KW - Placebo-controlled trial KW - Lipid-lowering therapy KW - Ldl receptor gene KW - Recessive hypercholesterolemia KW - Double-blind KW - Mutations KW - Disease KW - Inhibitor TI - Homozygous Familial Hypercholesterolemia in Spain Prevalence and Phenotype-Genotype Relationship TY - research article VL - 9 ER -