A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
We have identified a naturally occurring mutation in the promoter of the lipoprotein lipase (LPL) gene. One of 20 patients with familial combined hyperlipidemia (FCHL) and reduced levels of postheparin plasma LPL activity was found to be a heterozygote carrier of this mutation. The mutation, a T-->C...
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| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1995
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC41964/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7753827/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.10.4462 |
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