Catalytically inactive health: Cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency

Journal of Lipid Research

Volumn 38, Issue 3, 1997, Pages 585-591

  Yang, Xiao Ping ^a   Inazu, Akihiro ^a   Honjo, Akira ^b   Koizumi, Ichiro ^b   Kajinami, Kouji ^a   Koizumi, Junji ^a   Marcovina, Santica M ^c   Albers, John J ^c   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b Katsuyama Municipal Hospital   (Japan)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

expression; gene analysis; LCAT deficiency; mutagenesis

Indexed keywords

GLYCINE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SERINE; CHOLESTEROL ESTER; ENDODEOXYRIBONUCLEASE PVUII; LIPOPROTEIN; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADULT; ARTICLE; CASE REPORT; CATALYSIS; CHOLESTEROL TRANSPORT; DELETION MUTANT; DRUG RECEPTOR BINDING; ENZYME DEFICIENCY; ENZYME INACTIVATION; ESTERIFICATION; FAMILIAL DISEASE; GENE EXPRESSION REGULATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; MUTAGENESIS; PRIORITY JOURNAL; ANIMAL; BLOOD; CELL STRAIN COS1; CHEMISTRY; CONSANGUINITY; ENZYMOLOGY; FEMALE; GENETIC TRANSFECTION; GENETICS; HYPOLIPOPROTEINEMIA; JAPAN; METABOLISM; PEDIGREE; POINT MUTATION; PROTEIN CONFORMATION; RESTRICTION MAPPING;

ANIMALS; CHOLESTEROL ESTERS; CONSANGUINITY; COS CELLS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; HUMANS; JAPAN; LECITHIN ACYLTRANSFERASE DEFICIENCY; LIPOPROTEINS; MALE; PEDIGREE; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; POINT MUTATION; PROTEIN CONFORMATION; RESTRICTION MAPPING; TRANSFECTION;

EID: 0030610131     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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