Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent.

doi:10.1007/BF00212035

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Article

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent.

Human genetics - 1 Mar 1994

Bijvoet S M, Bruin T, Tuzgöl S, Bakker H D, Hayden M R, Kastelein J J

Abstract excerpt

The enzyme lipoprotein lipase (LPL) plays a crucial role in triglyceride metabolism through catalysis of triglyceride-rich chylomicrons and very low density lipoproteins. Primary LPL deficiency manifests with chylomicronaemia and is caused by mutations in the LPL gene. In this paper we report a n...

Topics

Adolescent
Base Sequence
Chylomicrons
DNA
Female
Glycine
Homozygote
Humans
Lipoprotein Lipase
Male
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Pedigree
Serine
Spain

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