A compound heterozygote for hepatic lipase gene mutations Leu334 → Phe and Thr383 → Met: Correlation between hepatic lipase activity and phenotypic expression

Journal of Lipid Research

Volumn 37, Issue 4, 1996, Pages 825-834

  Knudsen, Petteri ^a   Antikainen, Marjatta ^b   Ehnholm, Sonja ^c   Uusi Oukari, Mikko ^c   Tenkanen, Heli ^c   Lahdenperä, Sanni ^a   Kahri, Juhani ^a   Tilly Kiesi, Marju ^a   Bensadoun, Andre ^d   Taskinen, Marja Riitta ^a   Ehnholm, Christian ^c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d Department of Obstetrics Gynecology   (United States)

Author keywords

HDL cholesterol; hepatic lipase; HL deficiency; HL gene; mutation

Indexed keywords

HIGH DENSITY LIPOPROTEIN; LIPID; LIVER TRIACYLGLYCEROL LIPASE; LOW DENSITY LIPOPROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILIAL DISEASE; GENE MUTATION; HETEROZYGOTE; HUMAN; LIPID ANALYSIS; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AGED; ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL LINE; CHILD; DNA, COMPLEMENTARY; FEMALE; FINLAND; HETEROZYGOTE; HUMANS; LIPASE; LIPID METABOLISM, INBORN ERRORS; LIPIDS; LIVER; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; TRANSFECTION;

EID: 15844418442     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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