Article
[Molecular genetics and lipoprotein lipase deficiency].
Bulletin de l'Academie nationale de medecine - 1 Mar 1994
Foubert L, Benlian P, de Gennes J L
Abstract excerpt
Lipoprotein lipase (LPL) deficiency is the main cause of familial chylomicronemia, a disease characterised by high fasting plasma triglyceride levels, that can be complicated with acute pancreatitis. This autosomal recessive disorder is rare (1/10(6) in the general population). Classically this disorder is non atherogenic, and the heterozygotes are asymptomatic. To date, 35 gene mutations have been described...
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