Mutations in the ANGPTL3 gene and familial combined hypolipidemia: A clinical and biochemical characterization

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 7, 2012, Pages

  Minicocci, Ilenia ^a   Montali, Anna ^a   Robciuc, Marius Robert ^b   Quagliarini, Fabiana ^a   Censi, Vincenzo ^c   Labbadia, Giancarlo ^a   Gabiati, Claudia ^a   Pigna, Giovanni ^a   Sepe, Maria Laura ^d   Pannozzo, Fabio ^e   Lütjohann, Dieter ^f   Fazio, Sergio ^g   Jauhiainen, Matti ^b   Ehnholm, Christian ^b   Arca, Marcello ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c BioFab Research   (Italy)

^d Municipality of Campodimele ^*  (Italy)

^e SANTA MARIA GORETTI HOSPITAL   (Italy)

^f UNIVERSITY OF BONN   (Germany)

^g VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN; ANGIOPOIETIN LIKE 3 PROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ANGPTL3 GENE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; COHORT ANALYSIS; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRAIT; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYPOCHOLESTEROLEMIA; HYPOLIPEMIA; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN HOMEOSTASIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ANGIOPOIETINS; APOLIPOPROTEIN A-I; APOLIPOPROTEINS B; CASE-CONTROL STUDIES; CHOLESTEROL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HUMANS; HYPOLIPOPROTEINEMIAS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84863570067     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1298     Document Type: Article

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