Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia

Clin Genet. 1996 Dec;50(6):525-6. doi: 10.1111/j.1399-0004.1996.tb02727.x.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Exons / genetics
  • Genes
  • Genetic Linkage
  • Heterozygote
  • Hyperlipoproteinemia Type II / genetics*
  • Point Mutation
  • Polymerase Chain Reaction
  • Receptors, LDL / genetics*
  • Sequence Deletion

Substances

  • Receptors, LDL