The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia

Endocrine. 2012 Oct;42(2):445-8. doi: 10.1007/s12020-012-9669-0. Epub 2012 Apr 10.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Cohort Studies
  • Exons
  • Female
  • Genetic Association Studies
  • Heterozygote
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / metabolism
  • Lebanon
  • Lipoproteins, LDL / blood
  • Male
  • Mutation*
  • Pedigree
  • Penetrance
  • Receptors, LDL / genetics*
  • Receptors, LDL / metabolism
  • Young Adult

Substances

  • LDLR protein, human
  • Lipoproteins, LDL
  • Receptors, LDL