Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1259-1261

  Kassner, Ursula ^a   Salewsky, Bastian ^a   Wühle Demuth, Marion ^a   Szijarto, Istvan Andras ^a   Grenkowitz, Thomas ^a   Binner, Priska ^b   März, Winfried ^b,c,d   Steinhagen Thiessen, Elisabeth ^a   Demuth, Ilja ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b SYNLAB ACADEMY   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; FENOFIBRATE; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN LIPASE; OMEGA 3 FATTY ACID; TRIACYLGLYCEROL; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN RECEPTOR; LPL PROTEIN, HUMAN;

ADULT; ALLELE; ATHEROSCLEROSIS; BODY MASS; BRAIN; CARDIOVASCULAR RISK; CASE REPORT; CHRONIC PANCREATITIS; CONTROLLED STUDY; DISEASE SEVERITY; DOPPLER FLOWMETRY; FAMILY HISTORY; FAT INTAKE; FEMORAL ARTERY; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; IMPAIRED GLUCOSE TOLERANCE; INTERNAL CAROTID ARTERY; LIFESTYLE; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL ACTIVITY; PRIORITY JOURNAL; REVIEW; SPLEEN RUPTURE; SPLENECTOMY; STEATOSIS; TOBACCO DEPENDENCE; XANTHOMA; AMINO ACID SUBSTITUTION; BLOOD; COMPLICATION; DNA SEQUENCE; GENE EXPRESSION; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PANCREATITIS, CHRONIC; PROTEIN TERTIARY STRUCTURE; SEVERITY OF ILLNESS INDEX;

ALLELES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PANCREATITIS, CHRONIC; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LIPOPROTEIN; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; TRIGLYCERIDES;

EID: 84939268426     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.295     Document Type: Review

References (16)

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