Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-C levels

Human Mutation

Volumn 33, Issue 2, 2012, Pages 448-455

  Huijgen, Roeland ^a   Sjouke, Barbara ^a   Vis, Kelly ^a   de Randamie, Janine S E ^a   Defesche, Joep C ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a   Fouchier, Sigrid W ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Angptl3; Apob; Autosomal dominant hypercholesterolemia; Hypocholesterolemia; Pcsk9

Indexed keywords

ANGIOPOIETIN; ANGIOPOIETIN LIKE 3 PROTEIN; ANTILIPEMIC AGENT; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE SUBTILISIN; PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; CHOLESTEROL BLOOD LEVEL; EXON; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEALTH PROGRAM; HUMAN; HYPERCHOLESTEROLEMIA; INTRON; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; ANGIOPOIETINS; APOLIPOPROTEINS B; CHOLESTEROL, LDL; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PROPROTEIN CONVERTASES; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84857790541     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21660     Document Type: Article

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