Article
A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.
The American journal of cardiology - 15 Jun 1998
Wilson D J, Gahan M, Haddad L, Heath K, Whittall R A, Williams R R, Humphries S E, Day I N
Abstract excerpt
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.
Topics
- Amino Acid Sequence
- Base Sequence
- Databases as Topic
- Humans
- Hyperlipoproteinemia Type II
- Medical Informatics
- Molecular Sequence Data
- Mutation
- Receptors, LDL
- United States
