Article
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.
Human molecular genetics - 15 Jul 2007
Zhu Haiyan, Tucker H Michael, Grear Karrie E, Simpson James F, Manning Alisa K, Cupples L Adrienne, Estus Steven
Abstract excerpt
Single nucleotide polymorphisms (SNPs) 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 efficiency and cholesterol homeostasis. A SNP within LDLR exon 12, rs688, was identified in silico as neutralizing a...
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