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47 Use of DHPLC in the molecular diagnosis of autosomal dominant hypercholesterolemias


Book ID
117638674
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
156 KB
Volume
15
Category
Article
ISSN
0939-4753

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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