Article
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
Clinical genetics - 1 Feb 1996
Gundersen K E, Solberg K, Rødningen O K, Tonstad S, Ose L, Berg K, Leren T P
Abstract excerpt
We have employed analysis of single-strand conformation polymorphisms to identify mutations in the low density lipoprotein receptor gene causing familial hypercholesterolemia. Two familial hypercholesterolemia heterozygotes had abnormal single-strand conformation polymorphism patterns of exons 4...
Topics
- Base Sequence
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL