Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 → Asn; Ser251 → Cys) resulting in lipoprotein lipase (LPL) deficiency

Netherlands Journal of Medicine

Volumn 49, Issue 5, 1996, Pages 189-195

  Bijvoet, S M ^a   Wiebusch, H ^b   Ma, Y ^c   Reymer, P W A ^a   Bruin, T ^a   Bakker, H D ^d   Funke, H ^b   Assmann, G ^b   Hayden, M R ^c   Kastelein, J J P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Chylomicronaemia; Lipoprotein lipase; Mutation

Indexed keywords

LIPOPROTEIN LIPASE;

ADOLESCENT; ARTICLE; CASE REPORT; DIAGNOSTIC ACCURACY; DNA DETERMINATION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; MALE; MUTATION; POLYMERASE CHAIN REACTION; SCREENING TEST;

EID: 0030298278     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: 10.1016/0300-2977(96)00043-5     Document Type: Article

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