Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

Hum Mutat. 1995;6(1):87-8. doi: 10.1002/humu.1380060117.
No abstract available

MeSH terms

  • Exons
  • France
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Receptors, LDL / genetics*

Substances

  • Receptors, LDL