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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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書誌詳細
主要な著者: Zhu, Haiyan, Tucker, H. Michael, Grear, Karrie E., Simpson, James F., Manning, Alisa K., Cupples, L. Adrienne, Estus, Steven
フォーマット: Artigo
言語:Inglês
出版事項: 2007
主題:
オンライン・アクセス: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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