Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. [electronic resource]
Producer: 20051108Description: 536-43 p. digitalISSN:- 0168-8278
- ATP Binding Cassette Transporter, Subfamily B, Member 11
- ATP-Binding Cassette Transporters -- chemistry
- Amino Acid Sequence
- Base Sequence
- Bile Acids and Salts -- metabolism
- Biological Transport
- Cholestasis, Intrahepatic -- genetics
- DNA Primers
- Female
- Gene Expression Regulation
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Pedigree
- Protein Conformation
- Recombinant Proteins -- chemistry
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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