Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

Hum Mutat. 1996;8(4):381-3. doi: 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Apolipoprotein A-I / blood
  • Apolipoproteins B / blood
  • Apolipoproteins E / blood
  • Apolipoproteins E / genetics
  • Child
  • Child, Preschool
  • Cholesterol / blood
  • Cholesterol, HDL / blood
  • Chylomicrons / blood*
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Hyperlipoproteinemia Type I / blood*
  • Hyperlipoproteinemia Type I / genetics*
  • Lipoprotein Lipase / blood
  • Lipoprotein Lipase / genetics*
  • Male
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic
  • Triglycerides / blood

Substances

  • Apolipoprotein A-I
  • Apolipoproteins B
  • Apolipoproteins E
  • Cholesterol, HDL
  • Chylomicrons
  • Triglycerides
  • Cholesterol
  • Lipoprotein Lipase