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PubMed ID:
18395098
Public Release Type:
Journal
Publication Year: 2008
Affiliation: Institute of Liver Studies, King's College London School of Medicine at King's College Hospital, London, England. sandra.strautnieks@btinternet.com
DOI:
https://doi.org/10.1053/j.gastro.2008.01.038
Authors:
Pawlikowska L,
Cebecauerová D,
Byrne JA,
Strautnieks SS,
Rayner A,
Dutton L,
Meier Y,
Antoniou A,
Stieger B,
Arnell H,
Ozçay F,
Al-Hussaini HF,
Bassas AF,
Verkade HJ,
Fischler B,
Németh A,
Kotalová R,
Shneider BL,
Cielecka-Kuszyk J,
McClean P,
Whitington PF,
Sokal E,
Jirsa M,
Wali SH,
Jankowska I,
Pawłowska J,
Mieli-Vergani G,
Knisely AS,
Bull LN,
Thompson RJ
Studies:
A Prospective Database of Infants With Cholestasis
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.
