A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in moroccans of Berber ancestry

Human Mutation

Volumn 10, Issue 3, 1997, Pages 179-185

  Foubert, Luc ^a,b   Bruin, Taco ^c   De Gennes, Jean Luc ^b   Ehrenborg, Ewa ^a   Furioli, Jean ^d   Kastelein, John ^c   Benlian, Pascale ^a,e   Hayden, Michael ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d Hôp François Quesnay   (France)

^e HÔPITAL SAINT ANTOINE   (France)

Author keywords

Chylomicronemia; Genetics; Lipoprotein lipase; Morocco; Mutation

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; APOLIPOPROTEIN C2; ARGININE; CHYLOMICRON; DNA; FAT; HIGH DENSITY LIPOPROTEIN; LIPID; LIPOPROTEIN; LIPOPROTEIN LIPASE; MEDIUM CHAIN FATTY ACID; SERINE; TRIACYLGLYCEROL;

ACUTE PANCREATITIS; ALLELE; ARTICLE; BLOOD LEVEL; CASE REPORT; CHILD; FEMALE; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; HYDROLYSIS; HYPERLIPOPROTEINEMIA TYPE 1; ISOELECTRIC FOCUSING; LOW FAT DIET; MALE; MOROCCO; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ADOLESCENT; ADULT; ARGININE; CHILD; CHYLOMICRONS; FEMALE; FOUNDER EFFECT; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MOROCCO; PEDIGREE; POINT MUTATION; SERINE;

EID: 0030848555     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E     Document Type: Article

References (7)

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