Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X

Hum Mutat. 2001 Apr;17(4):354. doi: 10.1002/humu.44.
No abstract available

MeSH terms

  • Aged
  • Codon, Nonsense / genetics*
  • Exons / genetics
  • Female
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Receptors, LDL / chemistry
  • Receptors, LDL / genetics*

Substances

  • Codon, Nonsense
  • Receptors, LDL

Associated data

  • GENBANK/L00344