טוען...
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
We have systematically investigated a genetic defect resulting in a primary lipoprotein lipase (LPL) deficiency in a proband TN and his affected brother SN, both manifesting familial hyperchylomicronemia. Neither LPL activity nor immunoreactive LPL mass was detected in postheparin plasma from the tw...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
1992
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC442891/ https://ncbi.nlm.nih.gov/pubmed/1737848 |
| תגים: |
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