Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

Atherosclerosis

Volumn 182, Issue 1, 2005, Pages 153-159

  Pisciotta, Livia ^a   Calabresi, Laura ^b   Lupattelli, Graziana ^c   Siepi, Donatella ^c   Mannarino, Massimo Raffaele ^c   Moleri, Elsa ^b   Bellocchio, Antonella ^a   Cantafora, Alfredo ^d   Tarugi, Patrizia ^e   Calandra, Sebastiano ^e   Bertolini, Stefano ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF PERUGIA   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Familial hypercholesterolemia; LCAT gene; LDL receptor gene; Monogenic hypoalphalipoproteinemia; Premature coronary artery disease

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN RECEPTOR; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATHEROSCLEROSIS; CHOLESTEROL ESTERIFICATION; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; HYPOLIPOPROTEINEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; APOLIPOPROTEINS E; CHOLESTEROL; CORONARY ARTERIOSCLEROSIS; ESTERIFICATION; FAMILY HEALTH; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; RECEPTORS, LDL; TANGIER DISEASE;

EID: 23944491619     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2005.01.048     Document Type: Article

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