Low-density lipoprotein receptor mutations generate synthetic genome-wide associations

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 563-566

  Oosterveer, Daniella M ^a   Versmissen, Jorie ^a   Defesche, Joep C ^b   Sivapalaratnam, Suthesh ^b   Yazdanpanah, Mojgan ^c   Mulder, Monique ^a   Van Der Zee, Leonie ^a   Uitterlinden, Andre G ^a   Van Duijn, Cornelia M ^a   Hofman, Albert ^a   Kastelein, John J P ^b   Aulchenko, Yurii S ^a   Sijbrands, Eric J G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Familial hypercholesterolemia; Genome wide association studies; LDLR mutations; Synthetic associations

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE LOCATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

COHORT STUDIES; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, LDL;

EID: 84876673908     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.207     Document Type: Article

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