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Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.
The molecular defect that leads to a deficiency of lipoprotein lipase (LPL) activity in the proband from a Bethesda kindred has been identified. The pre- and post-heparin plasma LPL mass in the proband was elevated when compared to controls; however, there was no detectable LPL activity, indicating...
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Huvudupphovsmän: | , , , , , , |
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Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
1990
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Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC53923/ https://ncbi.nlm.nih.gov/pubmed/2110364 |
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