Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C

Atherosclerosis

Volumn 209, Issue 1, 2010, Pages 163-166

  Cameron, Jamie ^a   Ranheim, Trine ^a   Halvorsen, Bente ^a,b   Kulseth, Mari Ann ^a   Leren, Trond P ^a   Berge, Knut Erik ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

ABCA1 gene; Cholesterol efflux; HDL cholesterol; Mutation; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN E; FERRITIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IRON; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; AGED; ANAMNESIS; ARTICLE; CARDIOVASCULAR RISK; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL TRANSPORT; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA SEQUENCE; FERRITIN BLOOD LEVEL; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HELA CELL; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; IRON BINDING CAPACITY; IRON BLOOD LEVEL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PLASMID; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RISK ASSESSMENT; SCREENING TEST; SEQUENCE ANALYSIS; STOP CODON; TANGIER DISEASE; THROMBOCYTOPENIA;

ADULT; AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL, HDL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NORWAY; PEDIGREE; TANGIER DISEASE;

EID: 77049124744     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.08.039     Document Type: Article

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