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Chylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects
BACKGROUND: Recent studies in mice have established that an endothelial cell protein, GPIHBP1, is essential for the lipolytic processing of triglyceride-rich lipoproteins. METHODS AND RESULTS: We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicron...
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| Autors principals: | , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2858258/ https://ncbi.nlm.nih.gov/pubmed/20124439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.109.908905 |
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