Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic

Cell. 1977 Nov;12(3):629-41. doi: 10.1016/0092-8674(77)90263-x.
No abstract available

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles*
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts
  • Genotype
  • Humans
  • Hypercholesterolemia / genetics
  • Hypercholesterolemia / metabolism
  • Infant
  • Infant, Newborn
  • Lipoproteins, LDL / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Protein Binding
  • Receptors, Drug / genetics*
  • Syndrome

Substances

  • Lipoproteins, LDL
  • Receptors, Drug