The LDL receptor locus and the genetics of familial hypercholesterolemia

Annu Rev Genet. 1979;13:259-89. doi: 10.1146/annurev.ge.13.120179.001355.
No abstract available

Publication types

  • Review

MeSH terms

  • Alleles
  • Cells, Cultured
  • Cholesterol / metabolism*
  • Gene Frequency
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / metabolism
  • Lipoproteins, LDL / metabolism*
  • Mutation
  • Phenotype
  • Skin / metabolism

Substances

  • Lipoproteins, LDL
  • Cholesterol