Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): A reappraisal by using a resequencing approach

Atherosclerosis

Volumn 242, Issue 2, 2015, Pages 618-624

  Minicocci, Ilenia ^a   Prisco, Cristina ^a   Montali, Anna ^a   Di Costanzo, Alessia ^a   Ceci, Fabrizio ^a   Pigna, Giovanni ^a   Arca, Marcello ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Association study; Familial combined hyperlipidemia; LDLR gene; LPL gene; Polymorphisms; Rare mutations; Resequencing

Indexed keywords

APOLIPOPROTEIN B; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL; LDLR PROTEIN, HUMAN; LPL PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; COMPUTER MODEL; CONTROLLED STUDY; FAMILIAL HYPERLIPEMIA; FEMALE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LIPOPROTEIN BLOOD LEVEL; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK FACTOR; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; TRIACYLGLYCEROL BLOOD LEVEL; AGED; ALTERNATIVE RNA SPLICING; CASE CONTROL STUDY; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; FAMILY HEALTH; GENETIC VARIATION; GENETICS; GENOTYPE; ITALY; MIDDLE AGED; MUTATION; PHENOTYPE;

ADULT; AGED; ALLELES; ALTERNATIVE SPLICING; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; ITALY; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, LDL;

EID: 84940731602     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2015.06.036     Document Type: Article

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