Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

Atherosclerosis

Volumn 241, Issue 1, 2015, Pages 79-86

  Rabacchi, Claudio ^a   Pisciotta, Livia ^b   Cefalù, Angelo B ^c   Noto, Davide ^c   Fresa, Raffaele ^b   Tarugi, Patrizia ^a   Averna, Maurizio ^c   Bertolini, Stefano ^b   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

Author keywords

Familial chylomicronemia; Gene variants; Lipoprotein lipase; Pancreatitis; Primary hypertriglyceridemia

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL; BIOLOGICAL MARKER; LPL PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ALGORITHM; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; COMPUTER MODEL; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; INDEL MUTATION; INFANT; INTRON; ITALY; LIPOPROTEIN LIPASE GENE; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PANCREATITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD; TRIACYLGLYCEROL BLOOD LEVEL; YOUNG ADULT; BLOOD; CLINICAL TRIAL; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HYPERLIPOPROTEINEMIA TYPE I; MULTICENTER STUDY; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TERTIARY CARE CENTER;

ADOLESCENT; ADULT; AGED; BIOMARKERS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INFANT; ITALY; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; PANCREATITIS; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TERTIARY CARE CENTERS; TRIGLYCERIDES; YOUNG ADULT;

EID: 84928914404     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2015.04.815     Document Type: Article

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