Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene

Atherosclerosis

Volumn 234, Issue 1, 2014, Pages 30-33

  Berge, Knut Erik ^a   Retterstøl, Kjetil ^b,c   Romeo, Stefano ^d,e   Pirazzi, Carlo ^d   Leren, Trond P ^a  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Deletion; GPIHBP1; Homozygosity; Lipoprotein lipase activity; Type 1 hyperlipoproteinemia

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; DNA; HEPARIN; LIPOPROTEIN LIPASE; SODIUM CHLORIDE; TRIACYLGLYCEROL; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR;

ADULT; APOLIPOPROTEIN A1 GENE; APOLIPOPROTEIN A5 GENE; APOLIPOPROTEIN C2 GENE; ARTICLE; BLOOD SAMPLING; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; EXON; GENE; GENE DELETION; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1 GENE; HOMOZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; LIPASE MATURING FACTOR 1 GENE; LIPOPROTEIN LIPASE GENE; MOUSE; NONHUMAN; PANCREATITIS; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; TRIACYLGLYCEROL BLOOD LEVEL; YOUNG ADULT; FEMALE; GENETICS; MALE; MIDDLE AGED;

ADULT; EXONS; FEMALE; GENE DELETION; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; MALE; MIDDLE AGED; PEDIGREE; RECEPTORS, LIPOPROTEIN; SEQUENCE ANALYSIS, DNA;

EID: 84897934333     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2014.02.005     Document Type: Article

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