Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

Hum Mutat. 1998:Suppl 1:S232-3. doi: 10.1002/humu.1380110174.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Codon, Terminator / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Germany
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Mutagenesis, Insertional
  • Mutation
  • Polymorphism, Single-Stranded Conformational
  • Receptors, LDL / genetics*

Substances

  • Codon, Terminator
  • Receptors, LDL
  • DNA