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Publication
Familial hypercholesterolemia [CHAPTER 17]
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Advisor(s)
Abstract(s)
Familial 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). (...)
Description
Translational and Applied Genomics Series
Keywords
Familial Hypercholesterolemia Hipercolesterolemia Familiar Colesterol e_COR Estudo da Prevalência de Fatores de Risco Cardiovasculares na População Portuguesa Doenças Cardio e Cérebro-vasculares Portugal
Pedagogical Context
Citation
In: Lázaro C, Lerner-Ellis J, Spurdle A (eds). Clinical DNA Variant Interpretation: Theory and Practice. Elsevier/Academic Press, 2021, pp. 323-348.