A novel LCAT mutation (Phe382→Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100

Atherosclerosis

Volumn 170, Issue 1, 2003, Pages 105-113

  Nanjee, M Nazeem ^a,d   Stocks, Joseph ^a   Cooke, C Justin ^a   Molhuizen, Henri O F ^b   Marcovina, Santica ^c   Crook, David ^a   Kastelein, John P ^b   Miller, Norman E ^a  

^a UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF WASHINGTON   (United States)

^d Harrington Arthritis Research Center   (United States)

Author keywords

Apolipoprotein E; Coronary artery disease; Familial defective apo B 100; Fish eye disease; Genetic mutation; HDL deficiency; LCAT; Lp(a)

Indexed keywords

APOLIPOPROTEIN B100; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHENYLALANINE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; VALINE;

ADULT; AGED; ARTICLE; CAUCASIAN; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; ESTERIFICATION; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOLIPOPROTEINEMIA; IMMUNOREACTIVITY; ISCHEMIC HEART DISEASE; KRINGLE DOMAIN; LIPOPROTEIN BLOOD LEVEL; MALE; PRIORITY JOURNAL; SIBLING;

EID: 0042261758     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(03)00241-7     Document Type: Article

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