Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.
In a patient with primary hyperchylomicronemia as a result of lipoprotein lipase (LPL) deficiency, we sequenced all translated exons and intron-exon boundaries of the LPL gene. We found a C–>A mutation in position -3 at the acceptor splice site of intron 6 which caused aberrant splicing. The majo...
| Autori principali: | , , , , |
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| Natura: | Articolo |
| Lingua: | English |
| Pubblicazione: |
Elsevier
1994-12-01
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| Serie: | Journal of Lipid Research |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S0022227520399223 |