The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation

Atherosclerosis

Volumn 210, Issue 1, 2010, Pages 166-172

  Noguchi, Tohru ^a   Katsuda, Shoji ^a   Kawashiri, Masa aki ^a   Tada, Hayato ^a   Nohara, Atsushi ^a   Inazu, Akihiro ^a   Yamagishi, Masakazu ^a   Kobayashi, Junji ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

Familial hypercholesterolaemia; LDLR; Mutation; PCSK9

Indexed keywords

KEXIN; KEXIN 9; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL STRAIN HEPG2; CONTROLLED STUDY; DISEASE EXACERBATION; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GAIN OF FUNCTION MUTATION; GENE CONSTRUCT; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; JAPANESE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHOLESTEROL, LDL; ENZYME-LINKED IMMUNOSORBENT ASSAY; EXONS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTRONS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SERINE ENDOPEPTIDASES;

EID: 77952428579     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.11.018     Document Type: Article

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