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A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Selected missense mutations in the proprotein convertase subtilisin/kexin type 9 serine protease gene (PCSK9) cause autosomal dominant hypercholesterolemia, whereas nonsense mutations in the same gene are associated with low plasma levels of low-density lipoprotein cholesterol (LDL-C). Here, DNA seq...

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Autori principali: Kotowski, Ingrid K., Pertsemlidis, Alexander, Luke, Amy, Cooper, Richard S., Vega, Gloria L., Cohen, Jonathan C., Hobbs, Helen H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380285/
https://ncbi.nlm.nih.gov/pubmed/16465619
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