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Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia

✍ Scribed by Trond P. Leren; Knut Erik Berge


Book ID
116348032
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
156 KB
Volume
397
Category
Article
ISSN
0009-8981

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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