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...
Na minha lista:
| Publicado no: | Proc Natl Acad Sci U S A |
|---|---|
| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
1995
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|