TY - GEN AU - Noe,Johannes AU - Kullak-Ublick,Gerd A AU - Jochum,Wolfram AU - Stieger,Bruno AU - Kerb,Reinhold AU - Haberl,Michael AU - Müllhaupt,Beat AU - Meier,Peter J AU - Pauli-Magnus,Christiane TI - Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis SN - 0168-8278 PY - 2005///1108 KW - ATP Binding Cassette Transporter, Subfamily B, Member 11 KW - ATP-Binding Cassette Transporters KW - chemistry KW - Amino Acid Sequence KW - Base Sequence KW - Bile Acids and Salts KW - metabolism KW - Biological Transport KW - Cholestasis, Intrahepatic KW - genetics KW - DNA Primers KW - Female KW - Gene Expression Regulation KW - Humans KW - Male KW - Models, Molecular KW - Molecular Sequence Data KW - Mutagenesis, Site-Directed KW - Mutation KW - Pedigree KW - Protein Conformation KW - Recombinant Proteins N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.jhep.2005.05.020 ER -