Chora, Joana RitaMedeiros, Ana MargaridaAlves, Ana CatarinaBourbon, Mafalda2022-10-312022-10-312021-02-27In: Lázaro C, Lerner-Ellis J, Spurdle A (eds). Clinical DNA Variant Interpretation: Theory and Practice. Elsevier/Academic Press, 2021, pp. 323-348.978-0-12-820519-8http://hdl.handle.net/10400.18/8273Translational and Applied Genomics SeriesFamilial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism, with a heterozygous frequency of 1/250e1/500 in most of the European countries. Clinically FH is characterized by elevated concentrations of plasma cholesterol that accumulates in arteries and tendons from birth leading to premature coronary heart disease (pCHD). (...)engFamilial HypercholesterolemiaHipercolesterolemia FamiliarColesterole_COREstudo da Prevalência de Fatores de Risco Cardiovasculares na População PortuguesaDoenças Cardio e Cérebro-vascularesPortugalbook part978-0-12-820520-4