A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling

Am J Cardiol. 1998 Jun 15;81(12):1509-11. doi: 10.1016/s0002-9149(98)00215-x.


Familial hypercholesterolemia is an autosomal dominant inherited condition characterized by a mutation in the low-density lipoprotein receptor (LDLR) gene. A database has been set up on the World Wide Web for mutations in the LDLR gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Databases as Topic
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Medical Informatics*
  • Molecular Sequence Data
  • Mutation*
  • Receptors, LDL / genetics*
  • United States


  • Receptors, LDL