Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia

Journal of Clinical Lipidology

Volumn 10, Issue 3, 2016, Pages 538-546.e5

  Jiang, Long ^a   Sun, Li Yuan ^a   Pan, Xiao Dong ^a   Chen, Pan Pan ^a,b   Tang, Ling ^a,c   Wang, Wei ^a,d   Zhao, Li Min ^a   Yang, Shi Wei ^a   Wang, Lu Ya ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b UNIVERSITY OF SOUTH CHINA   (China)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^d NORTH CHINA UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Cardiovascular evaluations; Ezetimibe; Homozygous familial hypercholesterolemia; LDL receptor mutation; LDL C; Statin

Indexed keywords

ATORVASTATIN; DNA; EZETIMIBE; LIPID; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; PROBUCOL; ROSUVASTATIN; XUEZHIKANG;

ADOLESCENT; ADULT; AORTA VALVE REGURGITATION; ARTERY CALCIFICATION; ARTICLE; ATHEROSCLEROSIS; CHILD; CHINESE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CORONARY FLOW RESERVE; DNA SEQUENCE; ECHOCARDIOGRAPHY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; XANTHOMA; YOUNG ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENETICS; GENOTYPE; HOMOZYGOTE; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PHENOTYPE; TREATMENT OUTCOME;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; PHENOTYPE; RECEPTORS, LDL; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84971333769     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2015.12.016     Document Type: Article

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