Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

Hum Mutat. 1996;7(3):269-71. doi: 10.1002/(SICI)1098-1004(1996)7:3<269::AID-HUMU13>3.0.CO;2-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cholesterol / blood
  • DNA Primers
  • Denmark
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Introns / genetics
  • Lymphocytes / chemistry
  • Male
  • Molecular Sequence Data
  • Mutagenesis / genetics
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing / genetics*
  • Receptors, LDL / genetics*
  • Sequence Deletion / genetics

Substances

  • DNA Primers
  • Receptors, LDL
  • Cholesterol