Molecular pathobiology of the human lipoprotein lipase gene

This publication has 207 references indexed in Scilit:

• A Naturally Occurring Mutation at the Second Base of Codon Asparagine 43 in the Proposed N-Linked Glycosylation Site of Human Lipoprotein Lipase: In Vivo Evidence That Asparagine 43 Is Essential for Catalysis and Secretion
  Biochemical and Biophysical Research Communications, 1994
• A de novo mutation in the lipoprotein lipase (LPL) gene causing LPL deficiency
  Atherosclerosis, 1994
• Association of lipoprotein lipase gene polymorphism in intron 3 with hypertriglyceridemia
  Atherosclerosis, 1994
• Point mutations in lipoprotein lipase (LPL) gene in normal (N) and combined hyperlipidemic (CH) subjects
  Atherosclerosis, 1994
• A New Italian Case of Lipoprotein Lipase Deficiency: A Leu365→Val Change Resulting in Loss of Enzyme Activity
  Biochemical and Biophysical Research Communications, 1994
• A Missense Mutation (Ala334⇒Thr) in Exon 7 of the Lipoprotein Lipase Gene in a Case with Type I Hyperlipidemia
  Biochemical and Biophysical Research Communications, 1993
• A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family
  Biochemical and Biophysical Research Communications, 1992
• A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries
  Genomics, 1992
• Gene polymorphism identified by Pvull in familial lipoprotein lipase deficiency
  Biochemical and Biophysical Research Communications, 1989
• Severe lipemia induced by tamoxifen
  Cancer, 1986