Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

@article{Strautnieks2008SevereBS,
  title={Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.},
  author={Sandra S. Strautnieks and Jane A. Byrne and Ludmila Pawlikowska and Dita Cebecauerov{\'a} and Anne C Rayner and Laura Dutton and Yvonne Meier and Anthony Antoniou and Bruno Stieger and Henrik Arnell and Figen Ozçay and Hussa F Al-Hussaini and Atif F Bassas and Henkjan J. Verkade and Bj{\"o}rn Fischler and Antal N{\'e}meth and Radana Kotalov{\'a} and Benjamin L Shneider and Joanna Cielecka-Kuszyk and Patricia McClean and Peter F. Whitington and Etienne Sokal and Milan Jirsa and Sami H Wali and Irena Jankowska and Joanna Pawłowska and Giorgina Mieli-Vergani and Alex S Knisely and Laura N. Bull and Richard J. Thompson},
  journal={Gastroenterology},
  year={2008},
  volume={134 4},
  pages={1203-14}
}
BACKGROUND & AIMS Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. METHODS Patients with intrahepatic cholestasis suggestive of BSEP deficiency were investigated by single-strand conformation polymorphism analysis and sequencing of ABCB11. Genotypes sorted by likely… CONTINUE READING