Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

Human Mutation

Volumn 3, Issue 1, 1994, Pages 52-58

  Ma, Yuanhong ^a   Liu, Ming‐Sun ^a   Chitayat, David ^c   Bruin, Taco ^e   Beisiegel, Ulrike ^b   Benlian, Pascale ^d   Foubert, Luc ^d   De Gennes, Jean Luc ^d   Funke, Harald ^h   Forsythe, Ian ^a   Blaichman, Shirley ^c   Papanikolaou, Maria ^b   Erkelens, D W ^f   Kastelein, John ^e   Brunzell, John D ^g   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF HAMBURG   (Germany)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Lipid Research Group ^*  (Netherlands)

^f UTRECHT UNIVERSITY   (Netherlands)

^g UNIVERSITY OF WASHINGTON   (United States)

^h UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Chylomicronernia; Lipoprotein lipase; Mutations

Indexed keywords

ARGININE; CHYLOMICRON; CYSTEINE; HISTIDINE; LIPOPROTEIN LIPASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BASE PAIRING; CASE REPORT; CLINICAL FEATURE; CODON; ENZYME DEFICIENCY; HAPLOTYPE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RACE DIFFERENCE; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; CHINA; EUROPE; EXONS; GENE EXPRESSION REGULATION; HAPLOTYPES; HUMAN; LIPOPROTEIN LIPASE; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTAGENESIS; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028158096     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380030109     Document Type: Article

References (22)

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16. Human adipose tissue lipoprotein lipase: Changes with feeding and relationship to post heparin plasma enzyme
17. A single mutation (Pro207 Leu) in the human lipoprotein lipase gene as the most common cause of type I hyperlipidemia in French Canadians
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