A Common Polymorphism Decreases Low-Density Lipoprotein Receptor Exon 12 Splicing Efficiency and Associates with Increased Cholesterol

Single nucleotide polymorphisms (SNP)s that alter exon splicing efficiency are an emerging class of functional genetic variants. Since mutations in low-density lipoprotein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR SNPs may alter splicing efficien...

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Auteurs principaux: Zhu, Haiyan, Tucker, H. Michael, Grear, Karrie E., Simpson, James F., Manning, Alisa K., Cupples, L. Adrienne, Estus, Steven
Format: Artigo
Langue:Inglês
Publié: 2007
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2361133/
https://ncbi.nlm.nih.gov/pubmed/17517690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm124
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