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See Latest ArticlesAn NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia
Nutrition, Metabolism & Cardiovascular Diseases, 09/16/09
Martín B et al. – The –133A>G polymorphism exerts a significant effect on NPC1L1 promoter activity. NPC1L1 promoter variants might explain in part the hypercholesterolemic phenotype of some subjects with nonLDLR/nonAPOB ADH.
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