Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Wang, Haihong ^a   Xu, Shengyuan ^a   Sun, Liyuan ^a   Pan, Xiaodong ^a   Yang, Shiwei ^a   Wang, Luya ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ANTILIPEMIC AGENT; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN; MUTANT PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; B SCAN; CAROTID ATHEROSCLEROSIS; CASE REPORT; CHINESE; CONTROLLED STUDY; DOPPLER ECHOCARDIOGRAPHY; EMBRYO; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTERNALIZATION; LDLR GENE; MALE; MUTANT; PATHOGENICITY; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; TRANSTHORACIC ECHOCARDIOGRAPHY; XANTHOMA; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CONFOCAL MICROSCOPY; ENDOCYTOSIS; FLOW CYTOMETRY; GENETICS; HEK293 CELL LINE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; ENDOCYTOSIS; FEMALE; FLOW CYTOMETRY; HEK293 CELLS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PROTEIN STABILITY; RECEPTORS, LDL;

EID: 84899913069     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092703     Document Type: Article

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