Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia. [electronic resource]
Producer: 20120405Description: 134-43 p. digitalISSN:- 1879-1484
- Adult
- Cholesterol -- metabolism
- Cholesterol, LDL -- metabolism
- Family Health
- Female
- Gene Expression Regulation
- Genes, Reporter
- Genetic Variation
- Hep G2 Cells
- Humans
- Hypolipoproteinemias -- genetics
- Lipid Metabolism
- Male
- Microscopy, Fluorescence -- methods
- Middle Aged
- Mutation
- Mutation, Missense
- Pedigree
- Sequence Analysis, DNA
- Sterol Regulatory Element Binding Protein 1 -- genetics
- Sterol Regulatory Element Binding Protein 2 -- genetics
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Publication Type: Journal Article
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