Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1

Pediatr Int. 2023 Jan-Dec;65(1):e15559. doi: 10.1111/ped.15559.
No abstract available

Keywords: GPIHBP1; hyperchylomicronemia; hypertriglyceridemia; lipoprotein lipase; pancreatitis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Hyperlipidemias*
  • Hypertriglyceridemia* / genetics
  • Lipoprotein Lipase
  • Mutation
  • Receptors, Lipoprotein* / genetics

Substances

  • Lipoprotein Lipase
  • GPIHBP1 protein, human
  • Receptors, Lipoprotein