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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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Bibliografiska uppgifter
Huvudupphovsmän: Beg, O U, Meng, M S, Skarlatos, S I, Previato, L, Brunzell, J D, Brewer, H B, Fojo, S S
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1990
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC53923/
https://ncbi.nlm.nih.gov/pubmed/2110364
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