An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

Nutrition, Metabolism and Cardiovascular Diseases

Volumn 20, Issue 4, 2010, Pages 236-242

  Martin B ^a   Solanas Barca, M ^b   García Otín, Á L ^b   Pampin S ^d   Cofan M ^c   Ros, E ^c   Rodriguez Rey J C ^d   Pocovi M ^a   Civeira, F ^b  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^d UNIVERSITY OF CANTABRIA   (Spain)

Author keywords

Cholesterol intestinal absorption; Familial hypercholesterolemia; Polymorphisms

Indexed keywords

APOLIPOPROTEIN B; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; LUCIFERASE; MEMBRANE PROTEIN; NPC1L1 PROTEIN, HUMAN; STEROL;

ADULT; AGED; ARTICLE; BLOOD; CELL LINE; CHOLESTEROL INTAKE; DOMINANT GENE; FEMALE; GEL MOBILITY SHIFT ASSAY; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENETICS; HAPLOTYPE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; MALE; MIDDLE AGED; PLASMID; PROMOTER REGION;

ADULT; AGED; APOLIPOPROTEINS B; CELL LINE; CHOLESTEROL, DIETARY; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; GENES, DOMINANT; GENETIC VARIATION; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; LUCIFERASES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PLASMIDS; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; RECEPTORS, LDL; STEROLS; TRANSFECTION;

EID: 77950950624     PISSN: 09394753     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.numecd.2009.03.023     Document Type: Article

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