Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a Chinese patient with hypertriglyceridemia

European Journal of Clinical Investigation

Volumn 30, Issue 1, 2000, Pages 33-40

  Chan, L ^a   Mak, Y ^a   Tomlinson, B ^a   Baum, L ^a   Wu, X ^b   Masarei, J ^c   Pang, C P ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Chinese; Compound heterozygous mutation; Hypertriglyceridemia; Lipoprotein lipase deficiency

Indexed keywords

ARGININE; LEUCINE; LIPOPROTEIN LIPASE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHINESE; CODON; CONTROLLED STUDY; ENZYME RELEASE; FEMALE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PANCREATITIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ANIMALS; CHILD; COS CELLS; FEMALE; HETEROZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED;

EID: 0033984707     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2362.2000.00587.x     Document Type: Article

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