Article
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
Proceedings of the National Academy of Sciences of the United States of America - 25 Oct 1994
Koivisto U M, Palvimo J J, Jänne O A, Kontula K
Abstract excerpt
We have identified a Finnish family with a typical phenotype of heterozygous familial hypercholesterolemia (FH) due to a single-base substitution in the proximal Sp1 binding site of the low density lipoprotein (LDL) receptor gene promoter. The mutation, a C-->T substitution at nucleotide -43, cosegregated with the FH phenotype in six available family members and abolished binding of Sp1 transcription factor to...
Topics
- Animals
- Base Sequence
- Binding Sites
- Cell Line
- Cells, Cultured
- Chloramphenicol O-Acetyltransferase
- Chlorocebus aethiops
- DNA
- DNA Primers
- Deoxyribonuclease I