Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

European Heart Journal

Volumn 33, Issue 11, 2012, Pages 1360-1366

  Motazacker, Mohammad Mahdi ^a   Pirruccello, James ^b,c,d   Huijgen, Roeland ^a   Do, Ron ^b,c,e   Gabriel, Stacey ^b   Peter, Jorge ^a   Kuivenhoven, Jan Albert ^a   Defesche, Joep C ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a   Zelcer, Noam ^a   Kathiresan, Sekar ^b,c,e   Fouchier, Sigrid W ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

APOB; Autosomal dominant hypercholesterolaemia; Exome sequencing; Familial defective apolipoproteinaemia B; LDL; Linkage analysis

Indexed keywords

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

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; EXOME; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; IN VITRO STUDY; LIVER CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR BINDING; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM;

APOLIPOPROTEINS B; EXOME; FEMALE; GENETIC LINKAGE; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MALE; MUTATION; PEDIGREE; PROPROTEIN CONVERTASES; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES;

EID: 84861815722     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehs010     Document Type: Article

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