Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

Human Mutation

Volumn 31, Issue 6, 2010, Pages 752-760

  Huijgen, Roeland ^a   Kindt, Iris ^b   Fouchier, Sigrid W ^a   Defesche, Joep C ^a   Hutten, Barbara A ^a   Kastelein, John J P ^a   Vissers, Maud N ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Foundation for the Identification of Persons with Inherited Hypercholesterolemia   (Netherlands)

Author keywords

Familial hypercholesterolemia; Genetic screening

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; BLOOD; COHORT ANALYSIS; FEMALE; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

ADULT; AGED; APOLIPOPROTEINS B; CHOLESTEROL, LDL; COHORT STUDIES; FEMALE; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; RECEPTORS, LDL; YOUNG ADULT;

EID: 77952684113     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21258     Document Type: Article

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