A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

Hum Mutat. 1997;9(3):274-6. doi: 10.1002/(SICI)1098-1004(1997)9:3<274::AID-HUMU10>3.0.CO;2-#.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Codon
  • DNA / analysis
  • Exons
  • Greece / epidemiology
  • Haplotypes
  • Humans
  • Hyperlipoproteinemia Type II / ethnology
  • Hyperlipoproteinemia Type II / genetics*
  • Incidence
  • Infant
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Receptors, LDL / genetics*

Substances

  • Codon
  • Receptors, LDL
  • DNA