Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Hum Mol Genet. 1994 Sep;3(9):1689-91. doi: 10.1093/hmg/3.9.1689.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Primers / genetics
  • Exons
  • Female
  • France / ethnology
  • Heterozygote
  • Humans
  • Hyperlipoproteinemia Type II / epidemiology
  • Hyperlipoproteinemia Type II / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Quebec / epidemiology
  • Receptors, LDL / genetics*

Substances

  • DNA Primers
  • Receptors, LDL