Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154–>Ser substitution in lipoprotein lipase.
We report the molecular basis of familial chylomicronemia and recurrent pancreatitis in five members of a large Dutch family. All patients had normal plasma hepatic lipase and apoC-II levels, but absent lipoprotein lipase (LPL) catalytic activity and low LPL mass in postheparin plasma. The mutation...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
1993-12-01
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| Serie: | Journal of Lipid Research |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S0022227520353529 |
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