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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC295125/
https://ncbi.nlm.nih.gov/pubmed/2010533
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