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). [electronic resource]
Producer: 19960327Description: 2125-9 p. digitalISSN:- 0964-6906
- Animals
- Base Sequence
- Binding Sites
- Cell Line
- DNA
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II -- genetics
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Promoter Regions, Genetic
- RNA, Messenger -- metabolism
- Receptors, LDL -- genetics
- Sp1 Transcription Factor -- metabolism
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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