The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

Genetics in Medicine

Volumn 15, Issue 12, 2013, Pages 948-957

  Vandrovcova, Jana ^a   Thomas, Ellen R A ^a   Atanur, Santosh S ^b   Norsworthy, Penny J ^a   Neuwirth, Clare ^a,c   Tan, Yvonne ^a,c   Kasperaviciute, Dalia ^a   Biggs, Jennifer ^a   Game, Laurence ^a   Mueller, Michael ^a   Soutar, Anne K ^a   Aitman, Timothy J ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^c IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

Author keywords

familial hypercholesterolemia; LDLR; molecular diagnostic testing; next generation sequencing; target enrichment

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

ADULT; AGED; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CLINICAL PROTOCOL; COHORT ANALYSIS; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC TEST ACCURACY STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE DELETION; GENE DUPLICATION; GENE LIBRARY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEPATITIS; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MYALGIA; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SIDE EFFECT; VALIDATION STUDY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION RATE; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84890050247     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.55     Document Type: Article

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