Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: Structure-function relationships and studies in a compound heterozygous proband

Journal of Lipid Research

Volumn 39, Issue 9, 1998, Pages 1870-1876

  Argyropoulos, George ^a   Jenkins, Alicia ^a   Klein, Richard L ^a   Lyons, Timothy ^a   Wagenhorst, Brett ^b   Armand, Jonny St ^c   Marcovina, Santica M ^d   Albers, John J ^d   Pritchard, P Haydn ^c   Garvey, W Timothy ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b US Air Force   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Familial LCAT deficiency; Fish eye disease; High density lipoprotein; LCAT activity; Lipoprotein a ; Polymerase chain reaction; Substrate recognition binding site

Indexed keywords

PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

ADULT; ARTICLE; CHOLESTEROL ESTERIFICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME SUBSTRATE COMPLEX; FEMALE; GENE MUTATION; HUMAN; HYPOLIPOPROTEINEMIA; MALE; MOLECULAR RECOGNITION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; APOLIPOPROTEIN A-I; CHOLESTEROL; CHOLESTEROL ESTERS; EXONS; FEMALE; HETEROZYGOTE; HUMANS; KINETICS; LECITHIN ACYLTRANSFERASE DEFICIENCY; LIPOPROTEINS, HDL; MALE; MUTATION; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 15644365077     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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