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

doi:10.1053/j.gastro.2008.01.038

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Article

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

Gastroenterology - 1 Apr 2008

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

Abstract excerpt

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...

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Identifiers

PMID: 18395098
DOI: 10.1053/j.gastro.2008.01.038

Genes

ABCB11

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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.PMID 18395098Read ↗

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