Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree

Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Chromosome Segregation / genetics*
  • Greece / epidemiology
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Isoleucine / genetics*
  • Mutation / genetics*
  • Pedigree
  • Receptors, LDL / genetics*
  • Threonine / genetics*

Substances

  • Receptors, LDL
  • Isoleucine
  • Threonine