Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
✍ Scribed by Livia Pisciotta; Claudio Priore Oliva; Angelo Baldassare Cefalù; Davide Noto; Antonella Bellocchio; Raffaele Fresa; Alfredo Cantafora; Dilip Patel; Maurizio Averna; Patrizia Tarugi; Sebastiano Calandra; Stefano Bertolini
- Book ID
- 118420957
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 232 KB
- Volume
- 186
- Category
- Article
- ISSN
- 0021-9150
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Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia
Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and A