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A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.

Lipoprotein lipase (LPL; triacylglyceroprotein acylhydrolase, EC 3.1.1.34) is an important enzyme involved in triacylglycerol metabolism. Primary LPL deficiency is a genetic disorder that is usually manifested by a severe elevation in triacylglycerol levels. We have used a recently isolated LPL cDNA...

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Detalhes bibliográficos
Main Authors: Langlois, S, Deeb, S, Brunzell, J D, Kastelein, J J, Hayden, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC286596/
https://ncbi.nlm.nih.gov/pubmed/2536938
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