A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia

Clin Genet. 2001 Apr;59(4):290-2. doi: 10.1034/j.1399-0004.2001.590414.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Genetic Markers
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Mutation*
  • Receptors, LDL / genetics*
  • Xanthomatosis / genetics*

Substances

  • Genetic Markers
  • Receptors, LDL