Article
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).
Human molecular genetics - 1 Nov 1995
Sun X M, Neuwirth C, Wade D P, Knight B L, Soutar A K
Abstract excerpt
We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required...
Topics
- Animals
- Base Sequence
- Binding Sites
- Cell Line
- DNA
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Promoter Regions, Genetic
- RNA, Messenger
- Receptors, LDL