Familial lecithin:cholesterol acyltransferase deficiency: Molecular analysis of a compound heterozygote. LCAT (Arg147 → Trp) and LCAT (Tyr171 → Stop)

Atherosclerosis

Volumn 131, Issue 1, 1997, Pages 85-95

  Guerin, Maryse ^a   Dachet, Christiane ^a   Goulinet, Sylvie ^a   Chevet, Dominique ^b   Dolphin, Peter J ^c   Chapman, M John ^a   Rouis, Mustapha ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Familial LCAT deficiency; Fish eye disease; LCAT gene mutation; Lipoprotein X; Renal failure

Indexed keywords

PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL ESTERIFICATION; CHOLESTEROL METABOLISM; ENZYME ACTIVE SITE; ENZYME DEFECT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY FAILURE; LIPID COMPOSITION; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

APOLIPOPROTEIN A-I; ARGININE; CHOLESTEROL; CHOLESTEROL ESTERS; CHOLESTEROL, HDL; DNA; FEMALE; HETEROZYGOTE; HUMANS; LECITHIN ACYLTRANSFERASE DEFICIENCY; MIDDLE AGED; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; TYROSINE;

EID: 0030950999     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(97)06079-6     Document Type: Article

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