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An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia
Nutrition, Metabolism and Cardiovascular Diseases, 2010A substantial number of subjects with autosomal dominant hypercholesterolemia (ADH) do not have LDL receptor (LDLR) or apolipoprotein B (APOB) mutations. Some ADH subjects appear to hyperabsorb sterols from the intestine, thus we hypothesized that they could have variants of the Niemann-Pick C1-Like 1 gene (NPC1L1).
B, Martín +8 more
openaire +2 more sources
VARIATION IN HMGCR AND NPC1L1 AND INFLAMMATORY BIOMARKERS
Journal of the American College of Cardiology, 2022Jiawen Li +7 more
openaire +1 more source
640 NPC1L1 GENE POLYMORPHISMS AFFECTING CHOLESTEROL ABSORPTION
Atherosclerosis Supplements, 2011T. Maeda +11 more
openaire +1 more source
Niemann-Pick C1-Like 1 (NPC1L1) Protein in Intestinal and Hepatic Cholesterol Transport
Annual Review of Physiology, 2011Lin Jia, Liqing Yu
exaly

