Use of targeted exome sequencing in genetic diagnosis of chinese familial hypercholesterolemia

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Wu, Wen Feng ^a,b   Sun, Li Yuan ^a   Pan, Xiao Dong ^b   Yang, Shi Wei ^a,b   Wang, Lv Ya ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b BEIJING INSTITUTE OF HEART   (China)

Author keywords

[No Author keywords available]

Indexed keywords

EZETIMIBE PLUS SIMVASTATIN; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; SIMVASTATIN; AZETIDINE DERIVATIVE; EZETIMIBE; HYPOCHOLESTEROLEMIC AGENT;

ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; DRUG EFFICACY; DRUG SAFETY; EXOME; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HUMAN; HUMAN CELL; LDLR GENE; LIPID BLOOD LEVEL; MALE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN BINDING; PROTEIN FUNCTION; SEQUENCE ANALYSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DRUG COMBINATION; GENETICS; GENOTYPE; HYPERCHOLESTEROLEMIA; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROCEDURES; TREATMENT OUTCOME;

ANTICHOLESTEREMIC AGENTS; ASIAN CONTINENTAL ANCESTRY GROUP; AZETIDINES; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DRUG THERAPY, COMBINATION; EXOME; GENOTYPE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MUTATION; PEDIGREE; PHENOTYPE; SIMVASTATIN; TREATMENT OUTCOME;

EID: 84899564433     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0094697     Document Type: Article

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