Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Journal of the American College of Cardiology

Volumn 67, Issue 22, 2016, Pages 2578-2589

  Khera, Amit V ^a,b   Won, Hong Hee ^c   Peloso, Gina M ^b,d   Lawson, Kim S ^e   Bartz, Traci M ^f   Deng, Xuan ^d   van Leeuwen, Elisabeth M ^g   Natarajan, Pradeep ^a,b   Emdin, Connor A ^b   Bick, Alexander G ^b   Morrison, Alanna C ^e   Brody, Jennifer A ^h   Gupta, Namrata ^b   Nomura, Akihiro ^b,i   Kessler, Thorsten ^j   Duga, Stefano ^k   Bis, Joshua C ^h   van Duijn, Cornelia M ^g   Cupples, L Adrienne ^d   Psaty, Bruce ^f,h   Rader, Daniel J ^l   Danesh, John ^m   Schunkert, Heribert ^j   McPherson, Ruth ⁿ   Farrall, Martin ^o   Watkins, Hugh ^o   Lander, Eric ^b   Wilson, James G ^p   Correa, Adolfo ^p   Boerwinkle, Eric ^e   Merlini, Piera Angelica ^q   Ardissino, Diego ^r   Saleheen, Danish ^s   Gabriel, Stacey ^b   Kathiresan, Sekar ^a,b   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^c Sungkyunkwan University   (South Korea)

^d BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^j TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^k HUMANITAS UNIVERSITY   (Italy)

^l UNIVERSITY OF PENNSYLVANIA   (United States)

^m UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁿ UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^o UNIVERSITY OF OXFORD   (United Kingdom)

^p UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^q OSPEDALE NIGUARDA CA GRANDA   (Italy)

^r UNIVERSITY HOSPITAL OF PARMA   (Italy)

^s UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

coronary artery disease; gene sequencing; genetics; low density lipoprotein cholesterol

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; SERINE PROTEINASE; APOB PROTEIN, HUMAN; APOLIPOPROTEIN B100; PCSK9 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 9;

ADULT; APOB GENE; ARTICLE; CARDIOVASCULAR RISK; COHORT ANALYSIS; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DIAGNOSTIC VALUE; DISEASE SEVERITY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LDLR GENE; LIPID ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PCSK9 GENE; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; BLOOD; CASE CONTROL STUDY; GENETIC VARIATION; GENETICS; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA TYPE II; MIDDLE AGED;

APOLIPOPROTEIN B-100; CASE-CONTROL STUDIES; CHOLESTEROL, LDL; COHORT STUDIES; CORONARY ARTERY DISEASE; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; PROPROTEIN CONVERTASE 9; RECEPTORS, LDL; SEQUENCE ANALYSIS;

EID: 84969596203     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2016.03.520     Document Type: Article

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