Bijvoet_1994_Hum.Genet_93_339

Reference

Title : Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent - Bijvoet_1994_Hum.Genet_93_339
Author(s) : Bijvoet SM , Bruin T , Tuzgol S , Bakker HD , Hayden MR , Kastelein JJ
Ref : Hum Genet , 93 :339 , 1994
Abstract :

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 novel molecular defect (G670-->A) in exon 4 of the LPL gene, resulting in a substitution of serine for glycine at position 139 in the mature protein. We identified homozygosity for this mutation in a boy of Spanish descent. In vitro mutagenesis provided formal proof that this missense mutation completely abolishes LPL function and therefore is the cause of LPL deficiency.

PubMedSearch : Bijvoet_1994_Hum.Genet_93_339
PubMedID: 8125488
Ser) causes chylomicronaemia in a boy of Spanish descent
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Related information

Mutation G166S_human-LPL

Citations formats

Bijvoet SM, Bruin T, Tuzgol S, Bakker HD, Hayden MR, Kastelein JJ (1994)
Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent
Hum Genet 93 :339

Bijvoet SM, Bruin T, Tuzgol S, Bakker HD, Hayden MR, Kastelein JJ (1994)
Hum Genet 93 :339