Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting

Clin Genet. 1999 Mar;55(3):212-4. doi: 10.1034/j.1399-0004.1999.550311.x.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Child
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / diagnosis
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Receptors, LDL / genetics*

Substances

  • Receptors, LDL
  • DNA