Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

Elevated levels of circulating low-density lipoprotein cholesterol (LDL-C) play a central role in the development of atherosclerosis. Mutations in proprotein convertase subtilisin/kexin type 9 (PCSK9) that are associated with lower plasma levels of LDL-C confer protection from coronary heart disease...

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Huvudupphovsmän: Zhao, Zhenze, Tuakli-Wosornu, Yetsa, Lagace, Thomas A., Kinch, Lisa, Grishin, Nicholas V., Horton, Jay D., Cohen, Jonathan C., Hobbs, Helen H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2006
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559532/
https://ncbi.nlm.nih.gov/pubmed/16909389
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