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Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function
Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP). It is associated with defects in MTP-mediated lipid transfer onto apolipoprotein B (APOB) and impaired secretion of APOB-containing lipoproteins. R...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
2010
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2912200/ https://ncbi.nlm.nih.gov/pubmed/20592474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI42703 |
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