Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

Complete deficiency of lipoprotein lipase (LPL) causes the chylomicronemia syndrome. To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene. We used the polymerase chain reaction...

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Bibliographic Details
Main Authors: Ameis, D, Kobayashi, J, Davis, R C, Ben-Zeev, O, Malloy, M J, Kane, J P, Lee, G, Wong, H, Havel, R J, Schotz, M C
Format: Artigo
Language:Inglês
Published: 1991
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC295125/
https://ncbi.nlm.nih.gov/pubmed/2010533
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