An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

Hum Mutat. 1996;7(1):82-4. doi: 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Genetic Carrier Screening
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic*
  • RNA, Messenger / genetics
  • Receptors, LDL / genetics*
  • Transcription, Genetic

Substances

  • RNA, Messenger
  • Receptors, LDL