Molecular Spectrum of Autosomal Dominant
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Marie Marduel; Alain CarriΓ©; Agnes Sassolas; Martine Devillers; ValΓ©rie Carreau;
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Article
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2010
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John Wiley and Sons
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English
β 122 KB
Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: __LDLR__ (LDL receptor), __APOB__ (apolipoprotein B) and __PCSK9__ (proprotein convertase subtili