A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

Hum Mutat. 1996;8(4):392. doi: 10.1002/humu.1380080402.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles
  • Codon
  • Female
  • Glutamic Acid
  • Humans
  • Hyperlipoproteinemia Type I / blood*
  • Hyperlipoproteinemia Type I / genetics*
  • Lipoprotein Lipase / genetics*
  • Pedigree
  • Point Mutation*

Substances

  • Codon
  • Glutamic Acid
  • Lipoprotein Lipase