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--&g...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Yang, W S, Nevin, D N, Peng, R, Brunzell, J D, Deeb, S S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1995
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC41964/
https://ncbi.nlm.nih.gov/pubmed/7753827
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