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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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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2007
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| Materias: | |
| Acceso en línea: | 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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