Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

Journal of Clinical Lipidology

Volumn 10, Issue 1, 2016, Pages 92-100.e1

  Ariza, María José ^a   Martínez Hernández, Pedro Luis ^b   Ibarretxe, Daiana ^c   Rabacchi, Claudio ^d   Rioja, José ^a   Grande Aragón, Cristina ^b   Plana, Nuria ^c   Tarugi, Patrizia ^d   Olivecrona, Gunilla ^e   Calandra, Sebastiano ^d   Valdivielso, Pedro ^a,f  

^a UNIVERSITY OF MÁLAGA   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^e UMEÅ UNIVERSITY   (Sweden)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LA VICTORIA   (Spain)

Author keywords

Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1); Lipoprotein lipase activity; Recurrent pancreatitis; Severe hypertriglyceridemia

Indexed keywords

APOLIPOPROTEIN C2; ATORVASTATIN; BINDING PROTEIN; CHOLESTEROL; FENOFIBRATE; GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; ISOLEUCINE; LIPOPROTEIN LIPASE; LYSINE; METHIONINE; OMEGA 3 FATTY ACID; THREONINE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR;

ACUTE PANCREATITIS; ADULT; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN C2 DEFICIENCY; ARTICLE; BLOOD SAMPLING; CASE REPORT; CODON; COMPUTER MODEL; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FEMALE; GENE; GENE SEQUENCE; GENOTYPE; GPIHBP1 GENE; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN DEFICIENCY; LOW FAT DIET; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATION INITIATION; TRIACYLGLYCEROL BLOOD LEVEL; VEGETARIAN DIET; ACUTE DISEASE; ADOLESCENT; CHILD; COMPLICATION; GENETICS; NUCLEOTIDE SEQUENCE; PANCREATITIS; YOUNG ADULT;

ACUTE DISEASE; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; FEMALE; HUMANS; HYPERTRIGLYCERIDEMIA; MALE; MUTATION, MISSENSE; PANCREATITIS; RECEPTORS, LIPOPROTEIN; RECURRENCE; YOUNG ADULT;

EID: 84958860814     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2015.09.007     Document Type: Article

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