Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Hum Mutat. 1998:Suppl 1:S226-31. doi: 10.1002/humu.1380110173.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Canada
  • Child
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • France / ethnology
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Mutation
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Receptors, LDL / genetics*

Substances

  • Receptors, LDL
  • DNA