Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients

Atherosclerosis. 1999 Jun;144(2):443-7. doi: 10.1016/s0021-9150(99)00008-8.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Cholesterol / blood
  • Chromosome Deletion*
  • Female
  • Founder Effect
  • Genetic Carrier Screening*
  • Haplotypes*
  • Humans
  • Hyperlipoproteinemia Type I / enzymology
  • Hyperlipoproteinemia Type I / genetics*
  • Infant
  • Japan
  • Lipoprotein Lipase / deficiency
  • Lipoprotein Lipase / genetics*
  • Male
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Triglycerides / blood

Substances

  • Triglycerides
  • Cholesterol
  • Lipoprotein Lipase