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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
Authors:Strautnieks Sandra S  Byrne Jane A  Pawlikowska Ludmila  Cebecauerová Dita  Rayner Anne  Dutton Laura  Meier Yvonne  Antoniou Anthony  Stieger Bruno  Arnell Henrik  Ozçay Figen  Al-Hussaini Hussa F  Bassas Atif F  Verkade Henkjan J  Fischler Björn  Németh Antal  Kotalová Radana  Shneider Benjamin L  Cielecka-Kuszyk Joanna  McClean Patricia  Whitington Peter F  Sokal Etienne  Jirsa Milan  Wali Sami H  Jankowska Irena  Pawłowska Joanna  Mieli-Vergani Giorgina  Knisely A S  Bull Laura N  Thompson Richard J
Affiliation:Institute of Liver Studies, King's College London School of Medicine at King's College Hospital, London, England. sandra.strautnieks@btinternet.com
Abstract:
Keywords:ABC, adenosine triphosphate-binding cassette   BSEP, bile salt export pump   CpG, cytosine guanine   NBF, nucleotide-binding fold   PCR, polymerase chain reaction   TM, transmembrane
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