Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia

Hum Mutat. 1995;6(3):254-6. doi: 10.1002/humu.1380060311.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Ireland
  • Lipoproteins, LDL / genetics*
  • Mutation

Substances

  • Lipoproteins, LDL