A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

Hum Mol Genet. 1993 Jul;2(7):1049-50. doi: 10.1093/hmg/2.7.1049.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • DNA / genetics
  • Exons
  • Female
  • Humans
  • Hyperlipoproteinemia Type I / enzymology
  • Hyperlipoproteinemia Type I / genetics*
  • Lipoprotein Lipase / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Deletion*

Substances

  • DNA
  • Lipoprotein Lipase